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THE ROLE OF THE INNATE IMMUNE SYSTEM IN BISPHOSPHONATE-INDUCED OSTEONECROSIS OF THE JAW By Carol Forster A thesis submitted in conformity with the requirement for the Degree of Master of Science Graduate Department of Dentistry University of Toronto © Copyright by Carol Forster 2011

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Page 1: Osteonecrosis of the jaw (ONJ) - T-Space - University of Toronto

THE ROLE OF THE INNATE IMMUNE SYSTEM

IN BISPHOSPHONATE-INDUCED

OSTEONECROSIS OF THE JAW

By

Carol Forster

A thesis submitted in conformity with the requirement

for the Degree of Master of Science

Graduate Department of Dentistry

University of Toronto

© Copyright by Carol Forster 2011

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THE ROLE OF THE INNATE IMMUNE SYSTEM IN

BISPHOSPHONATE-INDUCED OSTEONECROSIS OF THE

JAW

Carol Forster 2011, Degree of Master of Science, Graduate Department of Dentistry,

University of Toronto

ABSTRACT Bisphosphonate-induced osteonecrosis of the jaw (BPONJ) has been identified as a severe

complication of dental treatment in 1-10% of patients previously treated with intravenous

bisphosphonates. The mechanism by which bisphosphonates induce BPONJ is uncertain. It has

been noted that necrotic bone from BPONJ sites display signs of bacterial infection that suggests

that an immune defect may play a role in the pathophysiology of BPONJ. The purpose of this

thesis examined the effect of a potent bisphosphonate, zoledronate, on the innate immune

system, specifically, neutrophil function, differentiation and survival with in vitro and in vivo

murine models. Zoledronate exposure leads to decreased neutrophil migration, neutrophil

NADPH oxidase activity, circulating neutrophil counts, as well as neutrophil survival, however

does not appear to affect neutrophil differentiation. We present evidence that bisphosphonates

have the potential to depress the immune system in mice and a subset of patients, possibly

contributing to the pathogenesis of BPONJ.

ii

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Acknowledgements

Special thanks to Dr. Glogauer, who kindly accepted me as a summer research student many

years ago and then as a Masters student when I had little knowledge and experience in molecular

biology research. This study would not have been possible without his guidance, support and

encouragement.

I add my sincere thanks to my supervisory committee members, Drs. Sean Peel and Morris

Manoloson for their time in regular attendance to the committee meetings and for their advice

and critical discussion of my work.

I would also like to thank everyone in the CIHR Group in Matrix Dynamics. Special thanks to

Chunxiang Sun, and Jan Kuiper for their help with the GST-pull down assay and apoptosis

assays and other technical support in the Glogauer lab.

Finally, I would not have come this far without the love and support from my parents, my sibling

and my friends.

iii.

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TABLE OF CONTENTS

ABSTRACT……………………………………………………………….……………………..ii

ACKNOWLEDGEMENTS………………………………........................…………………… iii

TABLE OF CONTENTS……………………………………………........................……….…iv

LIST OF TABLES & FIGURES……………………………………..........................…….....vii

ABBREVIATIONS………………………………………………..........................……......…viii

Chapter 1: INTRODUCTION…………...………………...…........................….1

I. INTRODUCTION…………………………………………………………..........................2

II. BISPHOSPHONATES

A. Chemical Structure…………………………………………………………………….4

B. Mechanism of Action……………………………………………………………….…5

C. Targeting of Bisphosphonates to Bone and Cellular Uptake………………………….6

D. Distribution of bisphosphonates in bone………………………………………………7

E. Uptake and retention of bisphosphonates in bone……………………………………..8

F. Speed of onset of anti-fracture effects…………………………………………………9

G. Offset of Action……………………………………………………………………...10

H. Relating properties of individual bisphosphonates to their clinical effects………….11

I. Clinical uses of bisphosphonates……………………………………………………...12

i. Osteoporosis……………………………………………………………….…..12

ii. Paget’s disease…………………………………………………………….….12

iii. Bone oncology……………………………………………………………..…13

J. Side-effects of bisphosphonates…………………………………………………......14

III. BISPHOSPHONATE-INDUCED OSTEONECROSIS OF THE JAW (BPONJ)

A. Definition and Diagnosis…………………………………………………………….15

B. Staging Criteria………………………………………………………………………17

C. Incidence………………………………………………………………….………….17

i. Randomized control trials..................................................................................18

ii. Retrospective chart reviews………………………………………...…………18

D. Prevention …………………………………………………………………...………20

E. Management …………………………………………………………………...…….22

IV. NEUTROPHILS

A. Bone Marrow Origin of the Neutrophil………..………….……………….................24

B. The Fate of Circulating Neutrophils……………………………...……......................25

i. Leukocyte Rolling……………………………………………….……..............25

iv.

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ii. Leukocyte Arrest and Activation……………………………………….…......26

iii. Transendothelial Migration…………………………………………….........27

C The Role of the Cytoskeleton………………………………………………................29

D. Cell Morphological Changes………………………………………………................29

E. Chemotaxis………………………………………………………………...................30

i The role of the Rho family GTPases……………………………………...........30

F. Neutrophil Chemoattractants…………………………………………........................32

G. Phagocytosis ………………………………....…….………………….......................32

H. Neutrophil Respiratory Burst Oxidase ………………………………...….................33

I. Oral Neutrophils as a Diagnostic Test ………………………….....……………..….35

Hypothesis and Objectives of Thesis………………………………..........………..........…36

Chapter 2: MATERIALS AND METHODS……………………………….….38

2.1. Antibodies and reagents................................................................................39

2.2. Animals.........................................................................................................39

2.3. In vivo Zoledronate treatment……..............................................................39

2.4. Isolation of murine bone marrow neutrophils…........................................40

2.5. Measurement of NADPH oxidase activity............................................. …40

2.6. Zigmond chamber chemotaxis.................................................................... 41

2.7. Sodium periodate peritonitis....................................................................... 41

2.8. Circulating neutrophil levels....................................................................... 41

2.9. GST-pulldown assay.................................................................................. 42

2.10. Apoptosis assay...........................................................................................42

2.11. In vitro generation of neutrophils……………………….…..…………..42

2.12. BPONJ patient selection…………………………………………….…..43

2.13. Patient blood neutrophil chemotaxis and isolation…………………..….43

2.14. Patient oral rinse samples……………………………………………….44

2.15. Statistics………………………………………………………………....44

Chapter 3: RESULTS……………......................................................................45

3.1. Effect of Zoledronate on in vitro Neutrophil Function............................. .46

3.2. Effect of Zoledronate on in vivo Neutrophil Function…………….…. 46

3.3. RhoGTPase Assay.......................................................................................47

3.4. Effect of Zoledronate on Circulating Neutrophil counts……………… 47

3.5. Effect of Zoledronate on Neutrophil Differentiation and survival…….47

3.6. Blood neutrophil chemotaxis in BPONJ patients........................................49

3.7. Oral neutrophil recruitment in BPONJ patients……………………..........49

v.

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Chapter 4: DISCUSSION……………….............................................................55

4.1 Pathogenesis………………………………………………………………………...……….56

4.1-1. Anti-angiogenesis and Matrix Necrosis………………………………….……….56

4.1-2. Bone Turnover and Microcracks………………………………………….………57

4.1-3. Soft Tissue Toxicity ……………………………………………………….……..59

4.1-4. Infection …………………………………………………………………..………61

4.2 Purpose of Thesis ………………………………………………………………………...….63

4.3 Plausible Mechanism through which ZOL affects the innate immune system ………….…..63

4.4 Oral Innate Immunity ……………………………………………………………………..…64

4.5 The Effect of Zoledronate on Neutrophil Function and Survival………………………..…..65

4.5-1 Zoledronate negatively affects neutrophil function ……………………….……....66

4.5-2 Zoledronate affects neutrophil function through the small RhoGTPase RhoA …...68

4.5-3 Zoledronate affects mature neutrophil survival ……………………………….…..69

4.5-4 Zoledronate and G-CSF ………………………………………………..……….…69

4.6. Neutrophil Function in BPONJ patients ……………………………………………….…...71

4.7 Questions Arising from our Work …………………………………………………………..72

4.8 Study Limitations ……………………………………………………………………………74

4.9 Future Work …………………………………………………………………………………75

Thesis Summary………….......………………………..………...………………77

References…………………………………………………………..................…79

vi.

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List of Tables & Figures

Table 1. The chemical structure, MOA, potency and trade names of common BPs…….…….11

Table 2. Proposed clinical descriptions of BPONJ ……………………………………………16

Table 3. Staging criteria for BPONJ …………………………………………………………..17

Figure 1-A. Effect of Zoledronate on in vitro neutrophil chemotaxis..........................................50

Figure 1-B. Effect of Zoledronate on in vitro NADPH oxidase activity......................................50

Figure 2-A. Effect of in vivo Zoledronate treatment on in vitro chemotaxis..............................50

Figure 2-B. Effect of in vivo Zoledronate treatment on in vivo peritoneal recruitment............ 50

Figure 3. Possible mechanisms through which ZOL affects neutrophil functions.............. 51

Figure 4. Effect of Zoledronate on circulating neutrophil levels........................................... 51

Figure 5. Effect of Zoledronate on differentiation and apoptosis of mature neutrophils….. 52

Figure 5-A. Effect of Zoledronate on in vitro neutrophil differentiation from bone

marrow stem cells …………...……………………………….………………… . 52

Figure 5-B. Quantification of neutrophil cell death following ZOL exposure……………...... .52

Figure 5-C. ZOL affects mature neutrophil survival during the process of differentiation……52

Figure 5-D. Effect of ZOL on neutrophil apoptosis in the absence of G-CSF………………….52

Figure 5-E. Effect of ZOL on neutrophil apoptosis in the presence of G-CSF…………………52

Figure 6-A. Neutrophil Chemotaxis is perturbed in BPONJ patients….......................................54

Figure 6-B. Oral neutrophil counts in BPONJ patients vs. healthy control patients……...........54

vii.

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Abbreviations

AIDS Acquired immune deficiency syndrome

AAOMS American Academy of Oral and Maxillofacial Surgery

ASBMR American Society for Bone Mineral Research

BP Bisphosphonate

BPONJ Bisphosphonate-(associated/induced/related) osteonecrosis of the jaw

CTX Cross-linked C-telopeptide

F-actin Filamentous actin

FPP farnesyl diphosphate

fMLP N-Formyl-methionyl-leucyl-phenylalanine

G-actin Globular actin

GAP GTPase Activating Protein

GDI Guanine nucleotide dissociation inhibitor

GEF Guanine nucleotide exchange factor

GST Glutathione-S-transferase

GGPP geranylgeranyl diphosphate

HOCl hypochlorous acid

IV Intravenous

ICAT Isotope-Coded Affinity Tags

LPS lipopolysaccharide

MMP8 Matrix metalloprotein-8

MPO Myeloperoxidase

NADPH Nicotinamide Adenosine Dinucleotide Phosphate

N-BP Nitrogenous bisphosphonate

NonN-BP Non-nitrogenous bisphosphonate

NTX Cross-linked N-telopeptide

ONJ Osteonecrosis of the jaw

ORN Osteoradionecrosis

PMN Polymorphonuclear leukocyte

RCT Randomized control trial

ZOL Zoledronate

viii

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1

CHAPTER 1

INTRODUCTION

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I. INTRODUCTION

Bisphosphonates have become the primary treatment for the prevention of osteoporosis

and are used to treat hypercalcemia of malignancy and to reduce skeletal-related

symptoms and events in patients with multiple myeloma and metastatic bone lesions of

solid tumor cancers such as breast, prostate and lung cancer [1],[2]. Bisphosphonates are

potent inhibitors of osteoclast-mediated bone resorption. An important characteristic of

these drugs is their highly selective localization and retention in bone compared to other

tissues [3]. This quality makes them ideal candidates for treatment of bone diseases.

Bisphosphonates work by reducing bone turnover, increasing bone mass, and decreasing

the risk of fracture.

In recent years it has been noted that a small subset of patients (1-10%) treated with

intravenous bisphosphonates are at an increased risk of developing osteonecrosis of the

jaw (BPONJ) [4, 5]. The publicity surrounding this complication and the lack of

information about its underlying pathogenesis has led to apprehension amongst patients

and dental clinicians when treating patients with a history of bisphosphonate therapy [6].

Critical information that will help alleviate these concerns and improve oral treatment

approaches in this patient population is required.

The mechanism by which BPs induce BPONJ is uncertain. Several possible theories have

been cited in literature including: reduced bone turnover, ischemia, bone toxicity, soft

tissue toxicity and infection.

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In light of the more consistent observation that bacterial colonization is a common, if not

universal finding in BPONJ, we sought to explore the possibility that BPs may impart an

irreversible effect on the immune system of the host. There have been reports that in

some patients, bisphosphonates can cause neutropenia[7], inhibit neutrophil enzymes that

impact on wound healing such as MMP8 [8] and decreased generation of reactive oxygen

species formation [9, 10] . This is not surprising in view of the mechanism of action of

BPs which target small Rho GTPases that are signaling proteins integral to neutrophil

differentiation and function. It is important to note that the BP-related neutrophil defects

indicate that this side effect does not have any severe clinical effects such as increased

susceptibility to infection [11]. Clearly other aspects of the immune system are able to

compensate for the neutrophil effects systemically. However it is possible that in a small

subset of these patients, prolonged BP use may effect neutrophil differentiation and

function which could manifest in poor oral innate immunity, poor oral wound healing and

susceptibility to BPONJ

Being able to identify and understand the possible mechanisms through which

bisphosphonates affect normal bone/wound healing in the jaw will help identify patients

at risk of developing BPONJ and improve patient management. The goal of this thesis is

to look into the possible role that the immune system plays in the pathogenesis of this

rare condition.

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II. Bisphosphonates

A. Chemical Structure

Bisphosphonates (BPs) are pyrophosphate analogues, meaning that the central oxygen

atom in the molecule is replaced by a carbon atom, resulting in a P-C-P bond. The

existence of this bond not only enables the binding of the bisphosphonate to

hydroxyapatite, the naturally occurring mineral in bone, but also renders the molecule

highly resistant to hydrolysis under acidic conditions or by pyrophosphatases[12]. As a

result, BPs are not converted into metabolites in the body and are excreted unaltered. It

has been suggested that the two phosphate groups are required for binding to the bone

mineral, where varying one or both phosphonate groups can dramatically reduce the

affinity of the BP for bone mineral[13]. In the bisphosphonate molecule, two side chains

are attached to the central carbon atom (R1-the short side chain and R2-the long side

chain) which determine the potency of the particular bisphosphonate[12]. R1 substituents

such as hydroxyl or amino enhance chemisorption to mineral[14], while varying the R2

substituent‟s results in differences in anti-resorptive potency of several orders of

magnitude. Risedronate and zoledronate have been shown to be two of the most potent

anti-resorptive BPs in several animal models[15], due to the nitrogen atom within the

heterocyclic ring side group at R2. The increased anti-resorptive potency observed with

the different R2 groups is linked to its ability to affect the biochemical activity e.g.,

inhibition of the farnesyl diphosphate (FPP) enzyme[16]. The presence of nitrogen in the

R2 chain, as is the case in the second-generation bisphosphonates, increases the potency

of the drug by allowing the formation of a tridentate conformation that is able to bind

Ca2+

more effectively[17, 18].

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B. Mechanisms of Action

(i) Non-nitrogenous Bisphosphonates

Two classes of bisphosphonates exist depending on their chemical structure and

mechanism of function. As the name suggests, the non-nitrogen bisphosphonates (e.g.

clodronate, tiludronate and etidronate) do not have a nitrogen moiety within their side

chains, leading to a relatively lower potency drug. The non-nitrogenous BPs are

metabolized in the cell to generate cytotoxic analogs of ATP[19, 20]. These ATP analogs

form a non-functional molecule that competes with ATP in the cellular energy

metabolism and as a result, interferes with mitochondrial function[21]. In essence, the

induction of osteoclast apoptosis following the accumulation of such metabolites, appears

to be the major mode of action of these BPs in inhibiting bone resorption[3].

(ii) Nitrogenous Bisphosphonates

In contrast, the highly potent nitrogenous bisphosphonates (N-BPs) (e.g., pamidronate,

alendronate, ibandronate, risedronate and zoledronate) are not metabolized by osteoclasts

but instead bind to and inhibit farnesyl diphosphate (FPP) and geranylgeranyl

disphosphate (GGPP) [22] in the HMG-CoA reductase pathway (also known as the

mevalonate pathway). Inhibition of the HMG-CoA-reductase pathway at the level of

FPP and GGPP prevents the formation of two metabolites; farnesol and geranylgernaiol.

This ultimately disrupts the prenylation and membrane targeting of members of the Rho

family of small GTPases such as Ras, Rho, Rac, Rab and Cdc42 [23, 24]. These small

GTPases are essential for numerous immune and osteoclast cell functions [25]. As a

result, N-BPs may interfere with various intracellular processes such as cytoskeleton

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reorganization, vesicle transport, exocytosis and ultimately, apoptosis in the targeted cells

[26, 27].

C. Targeting of Bisphosphonates to Bone and Cellular Uptake

Nitrogenous BPs

The pronounced selectivity of bisphosphonates for bone rather than other tissues is the

basis for their value in clinical practice. The bone targeting property of the

bisphosphonates comes from the fact that they have a high avidity for Ca2+

ions[18].

Once in the circulation, the bisphosphonates selectively absorb onto exposed bone

surfaces in active areas of bone remodeling and concentrate there[28]. During the bone

resorptive process, the space beneath the osteoclast, known as the ruffled border is

acidified by the action of vacuolar-type proton pumps. The acidic pH of this environment

causes dissolution of the hydroxyapatite bone mineral and as a result leads to the release

of free, non-mineral bound bisphosphonate. Since the osteoclasts are here in the highest

proportion, they are therefore exposed to the highest concentration of drug[28, 29].

Because the osteoclasts are highly endocytic during the bone resorption process,

bisphosphonates located in the resorption lacuna in bone are internalized in the

osteoclast. The N-BPs carry a highly negative charge and are therefore considered

membrane impermeable, and the manner in which bisphosphonates cross the vacuolar

membrane to enter the cytoplasm is not well established[30, 31]. In a previous study,

Felix et al. used radiolabeled bisphosphonates to study uptake by calvarial cells in vitro

and confirmed that the bisphosphonates could enter the cytoplasm as well as

mitochondria and other organelles[32]. Studies with slime mold amoebae, where the

growth is inhibited by bisphosphonates[33], have also demonstrated that cellular uptake

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occurs by fluid-phase endocytosis. The endocytosis of the BPs by the osteoclasts leads to

a disruption of the cytoskeleton, loss of ruffled border, inhibition of lysosomal enzymes,

and protein tyrosine phosphatases[34]. In addition to their primary action on the

osteoclast activity and life span, bisphosphonates also reduce the number of active

osteoclasts by inhibiting their recruitment and finally they inhibit the osteoclast-

stimulating activity of osteoblasts[34].

D. Distribution of Bisphosphonates in bone

At the microscopic level, BPs initially localize to areas of active bone turnover[28]. This

pattern of localization has the advantage of targeting BPs specifically to disease sites in

Paget‟s disease and metastatic cancer in bone, and possibly even in osteoporosis. A

majority of the BPs that attach to the bone surface become quickly buried in the bone

where they can be retained for long periods of time.

Small amount of BPs can be measured over several weeks or months in the urine

following cessation of the drug due to the release from the skeleton[35, 36]. This suggests

that BPs must be present in the circulation and ready for re-absorption into bone for

prolonged periods, and may be responsible for their ongoing pharmacological actions.

In theory, the release of BPs from bone can occur through at least two mechanisms; either

chemical desorption and/or ostoclastic resorption. The binding of BPs to hydroxyapatite

surfaces is a reversible physiochemical process[16, 37], such that BP absorption will

occur when extracellular concentrations are high and desorption will occur when

extracellular levels are low[16, 37].

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Bisphosphonates will also be released from bone during osteoclastic resorption. It is

unknown the relative contribution of desorption versus cell-mediated resorption. It is

assumed however that physico-chemical desorption to be more important immediately

after dosing, before the drug becomes buried under bone. However in the longer term,

after the cessation of dosing, release of BPs may occur readily as a result of liberation

during bone resorption[38].

E. Uptake and retention of BPs in bone

The retention of BPs in the skeleton has been studied in both animal and human models.

The use of radiolabeled BPs has been the main method used to measure the uptake and

retention of BPs in different parts of the skeleton. From these studies, approximately one

to two thirds of the administered BP dose becomes incorporated into the skeletons,

whereas the remainder is predominantly excreted into the urine within the first few hours

following administration. One of the difficulties in these retention studies has been the

fact that retention is affected by the disease state of the individual, renal function and

retention is also dependent on the specific BP used[39].

The concept of half-lives of retention can be quite misleading based on the fact that the

half-lives of the drugs are not equivalent to the half-lives of their effects. Much of the

BPs kept for long periods of time within the skeleton is likely to be rapidly “buried”

within the mineral phase rendering it pharmacologically inactive[40]. Thus the release of

BPs from bone is highly dependent on the remodeling and resorption. It is reasonable to

assume that the figures quoted in the literature that have previously referred to half-lives

of 10 years or greater, compared with days or months, do not offer valid comparisons

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among BPs. These figures also fail to give a true indication of the persistence of their

pharmacological effects[17].

F. Speed of onset of anti-fracture effects

From a clinical standpoint, it is advantageous to know the speed with which various BPs

achieve fracture reduction. There is evidence from individual randomized control trials

(RCTs), post-hoc analysis and observational studies to suggest that these effects occur to

varying degrees with the different BPs. However these results are not directly comparable

between the different BPs since there have been few head to head studies. One of these

studies performed was a 15 month, randomized study that compared intravenous

pamidronate to zoledronate in 90 subjects with active Paget‟s disease of bone [41].

Paget's disease is a disorder that involves abnormal bone destruction and regrowth, which

is typically monitored with blood levels of alkaline phosphatase (ALP), where elevated

levels suggest increased bone descruction. The primary efficacy endpoint used in this

study was therapeutic response at 6 months, which was defined as normalization of

alkaline phosphatase (ALP) or a reduction of at least 75% in total ALP excess. At 6

months, 97% of patients receiving zoledronate had a therapeutic response compared with

45% of patients receiving pamidronate. In the zoledronate group, normalization of ALP

was achieved in 93% of patients and in 35% of patients in the pamidronate group. ALP

normalization was maintained in 79% and 65% of zoledronate-treated patients after 12

and 15 months, respectively; loss of therapeutic response was observed in 2 of 30 (6%) at

12 and 15 months[41].

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When looking at radiographic vertebral fractures, several RCTs with aledronate[42] and

ibandronate[43] show a significant reduction following 24 months. While risedronate and

zoledronate show a significant reduction following only 12 months[11, 44].

G. Offset of Action

Information about the speed of reversal of effect following discontinuation of the BP is

limiting as no head-to-head studies of the different BPs have be undertaken. Bone

turnover markers, such as type-1 collagen crosslinked N-telopeptide (NTX) and type-1

collagen cross-linked C-telopeptide (CTX), can be used as an indirect measure of bone

turnover. Following 5 years of treatment with aledronate, bone turnover markers

appeared to be at least partially suppressed for up to 5 years after treatment was

discontinued[45, 46]. Similarly, bone turnover markers remained reduced for 1 year after

a single IV dose of zoledronate at 4 or 5-mg and remained significantly reduced at the 2

year follow up [11, 47]. While a variety of BPs have been shown to affect the duration of

suppression of bone turnover, data from animal and human studies suggest that the dose

of the BP also plays a role. In general, the higher the dose or the higher the bone affinity

of the drug, the longer bone turnover remains reduced[47, 48].

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H. Relating properties of individual BPs to their clinical effects

Due to the diverse structures of the BPs, each one can display unique biochemical

potency on FPP and potential differences in mineral targeting and release (Table 1). The

rank order of the most critical properties is as follows[17]:

Mineral affinity: clodronate < etidronate < risedronate < ibandronate < alendronate <

pamidronate < zoledronate

FPP enzyme inhibition: etidronate < clondronate (extremely weak inhibitors) <<<<<

pamidronate < alendronate < ibandronate < risedronate < zoledronate

Table 1. The chemical structure, mechanism of action, potency and trade

names of common bisphosphonates

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I. Clinical Uses of Bisphosphonates

Since it was first recognized that BPs are selectively absorbed by the skeleton, oral and

intravenous forms of BPs have become widely used for the treatment of osteoporosis,

Paget‟s disease, and in oncology.

(i) Osteoporosis

Oral and in a fewer cases, intravenous bisphosphonates, are the preferred

pharmacological agents in the treatment of osteoporosis. Bisphosphonates are effective

in increasing bone mineral density and lowering the risk of fractures at the spine by 30-

70%, and also to varying degrees at other skeletal sites in postmenopausal women[42,

49, 50]. Etidronate was the first BP approved for osteoporosis[51, 52], followed by

alendronate, risedronate[44], and ibandronate[43], and most recently zoledronate[11].

(ii) Paget’s Disease

Many different BPs have been prescribed to treat Paget‟s disease. The order of potency

of the different BPs used to suppress the rapid bone turnover observed in Paget‟s disease

appears to be similar to their order of anti-resorptive potency observed in an animal

model: etidronate< clodronate < pamidronate < alendronate < risedronate <

zoledronate[53, 54]. Recently, zoledronate and risendronate, newer and more potent BPs,

have been observed to produce an even greater suppression in disease activity. In the

most recent study[48], a single 5mg infusion of zoledronate was found to produce a

greater and longer lasting suppression of excess bone turnover than oral risedronate

given at 30 mg daily over 2 months.

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(iii) Bone Oncology

Bisphosphonates are quite effective in the treatment of bone complications associated

with malignancy, including hypercalcemia and/or increased bone destruction and now

are considered the standard of care when treating these patients. The concept behind

using these osteoclastic inhibitors in the therapeutic armamentarium for bone metastases

is explained by the pathophysiology of tumor-induced osteolysis. Once cancer cells

colonize the bone marrow, they are attracted to the surface of the bone by products from

bone resorption. The cancer cells have the ability to increase osteoclast differentiation of

hematopoietic stem cells and over time destroy the bone via direct osteoclast

stimulation[55, 56]. As well, in the case of cancers of the breast, the propensity to

metastasize and proliferate is best explained by the “seed and soil” theory [57]. The

“seed” (the breast cancer cell), secrete osteolytic factors, such as parathyroid hormone-

related peptide (PTHrP), which tend to increase the development of metastases in the

skeleton, which is thought of as the “soil” since it is rich in cytokines and growth factors

that are known to stimulate cancer cell growth. These cytokines are thought to induce

osteoclast differentiation from hematopoietic stem cell as well as activate mature

osteoclasts in the bone. The overall increase in osteoclast number and activity leads to

local foci of osteolysis, and enhanced released of growth factors that further stimulate

cancer cell proliferation. Thus a viscous cycle is created where the bone resorption-

induced release of growth factors from the bone matrix tends to encourage growth of

breast cancer cells and the production of osteolytic factors.

Zoledronate, clodronate, ibandronate, and pamidronate are all approved for clinical use

based on placebo-controlled trails, though not all are available in all countries.

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J. Side Effects of Bisphosphonates

Adverse effects are similar with oral bisphosphonates and include

upper gastrointestinal irritation, which may be manifested with heartburn,

esophagitis, abdominal pain, or diarrhea. Rarer adverse effects include bone, joint, and

muscle pain that subsides after the drug is discontinued. The i.v. preparation is associated

with osteonecrosis of the jaw, ocular inflammation manifesting as scleritis, uveitis, or

conjunctivitis, fever, leukopenia and nephritic syndrome[58, 59].

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III. Bisphosphonate-induced osteonecrosis of the Jaw

(BPONJ)

A. Definition and Diagnosis

Bisphosphonate-(induced/associated/related) osteonecrosis of the jaw (BPONJ) was first

described in the dental literature in 2003 [60]. There is no one agreed upon definition of

BPONJ however several professional groups have attempted to develop a more uniform

definition of BPONJ (Table 2). The diagnosis of BPONJ is primarily based on clinical

findings. The clinical findings that appears to be central to each associations definition of

BPONJ is a patient who has had current or previous treatment with a bisphosphonate, and

has exposed, necrotic bone in the maxillofacial region that has persisted for >8weeks; and

has no history of radiation therapy in the jaws[61].

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Table 2. Proposed clinical descriptions of osteonecrosis of the jaw (ONJ) American Society for

Bone and Mineral

Research (ASBMR)

Task Force (2007)

BPONJ is defined as an area of exposed bone in the maxillofacial region that does not heal

within 8 wk after identification by a healthcare provider, in a patient who is receiving of has

been exposed to a bisphosphonate and has not had radiation therapy to the craniofacial region.

Additional signs and symptoms may include pain, swelling, paresthesia, suppuration, soft

tissue, ulceration, intra-or extraoral sinus tracts, loosening of teeth, and radiographic

variability. However, these are neither individually nor collectively sufficient for a diagnosis

in the absence of exposed bone as described above.

American Academy of

Oral and Maxillofacial

Surgeons (AAOMS)

(2006)

Patients may be considered to have bisphosphonate-related ONJ if all of the following 3

characteristics are present:

1. Current or previous treatment with a bisphosphonate

2. Exposed bone in the maxillofacial region that has persisted for >8wk

3. No history of radiation therapy to the jaws

American College of

Rheumatology (ACR)

(2006)

ONJ typically appears as an intraoral lesion with areas of exposed yellow-white hard bone

with smooth or ragged borders, sometimes associated with extraoral or intraoral sinus tracts.

Painful ulcers may be present in the soft tissues adjacent to the ragged bony margins of the

lesion. Dental x-rays may be unremarkable in the early cases, but advanced cases demonstrate

poorly defined areas of „moth-eaten‟ radiolucencies, with or without radio-opaque bone

sequestra. Pathologic jaw fractures have occurred in some cases. In its most severe form, ONJ

may cause loss of a significant part of the mandible or maxilla.

American Association

of Endodontics (AAE)

(2006)

Patients presenting with bisphosphonate-associated ONJ typically present with at least some

of the following signs and symptoms:

1. An irregular mucosal ulceration with exposed bone in the mandible or maxilla

2. Pain or swelling in the affected jaw

3. Infection, possibly with purulence

4. Altered sensation (e.g., numbness or heavy sensation)

American Dental

Association (ADA)

(2006)

The typical clinical presentation of BON includes pain, soft-tissue swelling and infection,

loosening of teeth, drainage, and exposed bone. Symptoms may occur spontaneously in the

bone or, more commonly, at the site of a previous tooth extraction. In some cases, patients

seek dental care complaining of pain that may mimic a dental problem. Infection may or may

not be present. The “dental” problem does not respond to routine dental therapy, and there is

no clinically visible osteonecrosis. However, BON also may remain asymptomatic for weeks

or months and may become evident only after the finding of exposed bone in the jaw during a

routine examination. In some cases, the symptoms of BON can mimic dental or periodontal

disease. Routine dental and periodontal treatment will not resolve the symptoms. In this case,

if the patient is receiving bisphosphonate therapy, BON must be considered as a possible

diagnosis, even in the absence of exposed bone. If BON is suspected, dentists are encouraged

to contact the FDA‟s MedWatch program.

Multidisciplinary

expert panel

recommendations

(2006)

ONJ may remain asymptomatic for many weeks or months and is usually identified by its

unique clinical presentation of exposed bone in the oral cavity. These lesions typically

become symptomatic when sites become secondarily infected or it there is trauma to adjacent

and/or opposing healthy soft tissue from irregular surfaces of the exposed bone. Signs and

symptoms of ONJ include localized pain, soft-tissue swelling and inflammation, loosening of

previously stable teeth, drainage, and exposed bone. These symptoms most commonly occur

at the site of previous tooth extraction or other dental surgical interventions but may occur

spontaneously. Some patients may present with atypical complaints such as “numbness”, the

feeling of a “heavy jaw”, and various dysesthesias. Objective signs Adapted from American Association of Endodontics[62], J Am Dent Assoc[63], American Academy of Oral and

Maxillofacial Surgeons[64], J Bone Miner Res[65], Aust Fam Phys[66], American College of Rheymatology[67], and J

Oncol Pract[68]

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B. Staging Criteria

The model for cancer tumor staging has been classically used as the staging criteria for

BPONJ (Table 3.). The American Academy of Oral and Maxillofacial Surgery (AAOMS)

has been the dominant figure to date in the development of a more comprehensive staging

and grading system[69]. In order to better define the severity and assess the treatment

responses, this new system is not solely based on physical examinations and symptoms

but also incorporates the imaging results[61].

Table 3. Staging Criteria of BPONJ

Stage Description

At risk Patients that have been treated with oral or intravenous BPs that show

no apparent exposed/necrotic bone

Stage1 Exposed/necrotic bone in patients who are asymptomatic and have no

evidence of infection

Stage 2 Exposed/necrotic bone associated with infection with pain and

erythema in the region of exposed bone with or without purulence

Stage 3 Exposed/necrotic bone in patients with infection, pain, and ≥ 1 of the

following: pathologic fracture, extraoral fistula, or osteolysis

extending to the inferior border Adapted from American Academy of Oral Maxillofacial Surgeons[64]

C. Incidence Many of the estimates on the prevalence and incidence of BPONJ are weak, arising

primarily from anecdotal reports and single institutions‟ case reports and series. These

data are hindered by inconsistent definitions, as well as incomplete reporting. The risk of

BPONJ in patients receiving high potency BPs has been estimated to be about 1-10 per

100 patients depending on the duration of treatment.

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(i) Randomized Clinical Trials

In the United States, RCTs of clinical trials of bisphosphonates marketed for the

treatment of osteoporosis reported no cases of BPONJ, out of >17, 000 patient exposed to

aledronate, > 44, 000 patient-years of exposure to risedronate, and >12, 000 patients

exposed to ibandronate[61].

(ii) Retrospective Chart Reviews

A large systemic chart review of 4,019 caner patients receiving IV bisphosphonates

revealed 29 cases of ONJ, giving an overall prevalence of 0.72%. The criteria to be

considered ONJ used in this study was exposed non-healing bone with or without pain

≥ 3months duration. Of the 29 cases, 13 patients had multiple myeloma (13 of 548;

2.4%) and 16 had breast cancer (1.2%)[70].

A similar retrospective study was performed by Murad and colleagues[71] with 1,951

patients who had received oral or IV bisphosphonates or had a listed diagnosis suggestive

of ONJ. Two patients, both with multiple myeloma were identified with ONJ, who had

initially been treated with pamidronate for several years before being treated with

zoledronate. They identified dental extractions as the precipitating event in both cases.

A case control study performed by Bamias and colleagues[72] found that the incidence

ONJ increased with time exposed to intravenous BPs from 1.5% among cancer patients

treated for 4-12 months to 7.7% for treatment for 37-48 months. BPONJ was most

prevalent in the mandible (65.3%) than the maxilla (29.2%) and combination of maxilla

and mandible (4.8%).

King et al[73] reviewed 44 published case reports and case series describing 481 patients

with BPONJ. They concluded that BPONJ occurs more frequently in patients receiving

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intravenous bisphosphonates (94.2%) than in patients taking oral bisphosphonates

(5.8%). With the intravenous patients with BPONJ, 43% were taking Zoledronic acid,

29.1% were taking Pamidronate, with 26.7% taking a combination of Zoledronic acid and

Pamidronate with the remainder taking other combinations. In those patients who

developed BPONJ following oral BP exposure, 85.7% took Aledronate, while 10.7%

took Risedronate.

Cancer patients had a higher incidence of BPONJ (93.8%) than non-cancer patients.

Among cancer patients, multiple myeloma was the most common (52.3%), followed by

breast cancer (33%), other malignancies (14.6%). Among the non-cancer patients,

osteoporosis was the most common (4.8%), followed by Paget‟s disease (0.8%) then

osteopenia (0.6%)[73]. The most common inciting event of ONJ was investigated and

tooth extraction or other surgical or invasive dental procedure was reported as the most

common (68.8%), followed by spontaneous occurrences (20.7%), and (7.6%) had

periodontal disease, (0.4%) had oral ulcers, with (0.2%) having prior ONJ, maxillofacial

trauma, tooth abscess and new oral prosthesis[73].

Abu-Id et al. [74] recently reviewed 7500 patients from seven case series and found ONJ

to occur in 2-11% of multiple myeloma patients, 1-7% of breast cancer patients and 6-

15% of those with prostate cancer and suggest an overall prevalence of 5%. These results

suggest that these three malignancies do not differ in the risk of ONJ.

Hoff et al.[75] also reviewed charts of 4000 cancer patients treated with bisphosphonates

at MD Anderson Cancer Center and found that half of the patients had either breast

cancer or multiple myeloma, of which 1.2% and 2.8%, respectively developed BPONJ.

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Of the other half suffering from other malignancies, only two cases of BPONJ were

observed, giving a prevalence of 0.09%.

Recently a systematic review by Khan et al.[76] showed that prospective data evaluating

the incidence of BPONJ are very limited. In cancer patients receiving a high-dose

intravenous BP, BPONJ is dependent on the dose and duration of therapy, where 36

months of exposure has an estimated incidence of 1-12%. BPONJ was found to be quite

rare in osteoporosis patients, with an estimated incidence of <1 case per 100, 000 person-

years of exposure. They found that there was insufficient evidence to confirm a causal

link between low-dose BP therapy in the osteoporosis patient population and BPONJ,

where high-dose BP therapy, primarily in the oncology patient population, is associated

with BPONJ.

Prevention

Due to the absence of any randomized controlled trials in the area of prevention and

treatment of BPONJ, the recommendations regarding the prevention of BPONJ are based

on the available literature. Currently a number of institutions have developed

recommendations for the prevention of bisphosphonate-induced osteonecrosis of the jaw.

Current guidelines recommend that prior to starting BP therapy, a comprehensive dental

exam take place that allows optimization of dental health including tooth cleaning, tooth

extractions and any invasive surgical procedures. If the patient requires invasive surgical

procedures to be completed, it is recommended they wait until the wounds have healed,

generally 2-3 weeks after tooth extraction in the same manner as for patients who receive

radiotherapy to the head and neck region[6, 68, 77, 78].

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Once bisphosphonate therapy has begun (oral or intravenous), patients should avoid any

invasive dental procedures if possible. If the patient requires oral surgical intervention

while on oral bisphosphonates, it is recommended that they use chlorhexidine 0.12%

mouth rinse for 2 months after surgery[6, 77]. The American academy of Oral and

Maxillofacial Surgeons suggests that discontinuing oral bisphosphonates for 3 months

before and 3 months after invasive procedures (a “drug holiday”) may decrease the risk

of developing ONJ[64]. The idea of a drug holiday is supported by a study which uses a

breakdown product of bone resportion known as C-terminal telopeptide (CTX), as a

surrogate marker of bone turnover[79]. This telopeptide fragment is cleaved from the

main crosslink chains of collagen by the osteoclast during bone resorption. Its level in the

blood is therefore proportional to the amount of osteoclastic resorption occurring at the

time the blood is drawn. The authors suggest that CTX values less than 100 pg/mL

represent a high risk of BPONJ, CTX values between 100 pg/mL and 150 represent a

moderate risk, and CTX values above 150 pg/mL represent a minimal risk. Of clinical

importance, this study showed evidence that a 6-month drug holiday from oral

bisphosphonates had direct and significant improvements in the CTX values in every

patient. This improvement correlated to either spontaneous resolution of the exposed

bone, a significant improvement in the amount of exposed bone, or an uncomplicated

healing response after surgery[79]. The results of this study are controversial to many

who criticize that the lack of a control group render the results questionable, ie. patients

taking BP that had not developed BPONJ were not included.

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It is important to keep in mind that many of these recommendations are based on

anecdotal evidence, not data from clinical trials, and physicians must consider the

potential risks of discontinuing bisphosphonate therapy.

During intravenous bisphosphonate therapy, the oral cavity must be frequently monitored

for any signs of change. The optimal frequency for dental examinations for a patient

treated with intravenous BPs without signs of osteonecrosis is between two to four times

per year taking into account the dental hygiene of the patient[6, 77]. Migliorati et al

suggest that a maxillofacial CT-scan in the follow-up of the malignant disease may be

beneficial to provide additional information with regard to early development of

subclinical ONJ lesions. However, the number of exams are not well defined[80].

E. Management

In the absence of a clear case definition of BPONJ, the development of guidelines to

manage the condition is a considerable challenge. Several groups have developed

guideline for recommendations. For example, the AAOMS Position Paper states that the

management of BPONJ primarily depends on the staging categories of the disease[77],

where the ASBMR task force recommendations provide general guidelines regarding

management of infection, surgical management, and discontinuation of bisphosphonate

therapy[65]. In a majority of the available guidelines[77],[65, 68, 81], pain control,

treatment of infection and prevention of disease progression are the main goals of therapy

where no one therapeutic modality has proven efficacy.

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The treatment of BPONJ should initially include the treatment of infection. Once the

infection has been managed, the clinician should then focus on the treatment of necrotic

bone.

Treatment of an isolated infection consists first of antimicrobial testing to identify the

microbes specific to the environment then the appropriate antibiotics (possibly

clindamycin or amoxicillin in combination with metronidazole)[82]. It is also

recommended to combine systemic antibiotics with a local antiseptic treatment such as

chlorhexidine in combination with analgesics if necessary. If the infection has spread to

the adjacent soft tissues, then drainage of the abscess must be completed[83].

As a majority of the patients who have BPONJ were initially being treated for an

underlying malignant disease, one must take into account the life expectancy of patients

when considering how to properly manage the condition. In patients with a short-life

expectancy, supportive cares are recommended where is it suitable to leave the

spontaneously evolved disease. In individuals with longer-life expectancies, a curative

attitude may be more effective with the removal of exposed and surrounding bone[77,

83]. Biological factors such as fibrin or autologous platlet-rich plasma to cover the

osseous surface may provide some benefit in wound healing and bone regeneration[84,

85]. Primary closure of the surgical site with tension-free sutures is also advisable to

isolate the surgical site from the diseased environment[84].

In the posterior maxilla, most cases of BPONJ also present with an underlying sinusitis

due to a communication between the oral environment and the maxillary sinus. Before

considering closure of this communication, it is first advisable to resolve the sinusitis

with antibiotics[83].

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IV. NEUTROPHILS

1. THE LIFE OF THE NEUTROPHIL

A. Bone Marrow Origin of the Neutrophil

The bone marrow is the site of origin for neutrophils. Neutrophils originate from

committed progenitor cells, which arise from pluripotential hematopoietic stem cells

differentiating in response to specific growth factors. The hematopoietic stem cell upon

replication, generates a new stem cell along with a committed progenitor[86].

Neutrophils delivered to the circulation are mature, and are around 12-15μm in diameter.

They have a characteristic segmented nucleus with abundant cytoplasmic granules

(commonly referred to as a polymorphonuclear neutrophilic granulocyte), while its

immature myelocytic progenitor, known as the „band neutrophil‟, possess a band-shaped

nucleus with few cytoplasmic granules. Much of the machinery and molecules needed for

neutrophil responses are prepackaged into the cells‟ cytoplasmic granules or plasma

membrane, and thereby is available for cellular functions when needed when the cells are

initially isolated from blood[86].

For the purposes of having only functionally capable cells present at the front line of an

infection, only functional mature neutrophils are released from the bone marrow into the

blood stream. In healthy individuals, the levels of blood neutrophils remains fairly

constant at approximately 109cells/L blood[87]. The lifespan of the neutrophil in the

circulation is brief, displaying a half-life of approximately 6 hours. During the onset of

infection, the levels of blood PMNs rise quickly, in response to endotoxins released by

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gram-negative bacteria, and the neutrophils adhere to the endothelial cells and migrate

into infected tissues where the neutrophils survive for only 1-2 days.

B. The Fate of Circulating Neutrophils

At the sites of inflammation in the systemic circulation, post-capillary and collecting

venules are the principal sites for neutrophil adhesion and emigration. Once neutrophil

have left the blood circulation, they will never return. Neutrophils leave the circulating

blood stream by first tethering to and then rolling on the inflamed endothelium lining the

blood vessel lumen. Adhesion of neutrophils to the venule endothelium occurs normally

in the presence of fluid shear rates ranging from 150 to 1600 per second[86].

i) Leukocyte rolling

The Role of Selectins in neutrophil rolling

All the known members of the selectin family mediate neutrophil rolling on venule

endothelium[88-96]. The selectin family has three members, L-selectin (CD62L), P-

selectin (CD62P), and E-selectin (CD62E). L-selectins are expressed on the surface of

neutrophils, lymphocytes, monocytes and eosinophils[97]. Their localization to the

surface projections (ruffles), allows for close positioning to facilitate interactions with the

inflamed endothelial surface[98, 99]. Shedding of L-selectins occurs rapidly (minutes)

following neutrophil activation. P-selectin are expressed on the surface of activated

platelets and endothelial cells and translocate to the cell surface following stimulation

with thrombin, LTC4, histamine calcium ionophore A23187, complement proteins C5b-9

or phorbol esters. E-selectins on the other hand, are only expressed on the surface of

activated endothelial cells and a wide range of inflammatory mediators induce E-selectin

expression, including IL-1β, TNFα, bacterial endotoxin and substance P [100, 101]. With

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the development of mice deficient in one or more selectins, it is now apparent that each

of the selectins may mediate leukocyte rolling at different velocities which is also

dependent on the dose, type and timing of inflammatory stimuli [86, 102-104].

Selectins are constitutively active when expressed and bind with rapid rates of association

and dissociation that allow rolling in response to high forces of flowing blood.

ii) Leukocyte Arrest and Activation

The Role of Integrins

The function of integrins is to arrest rolling cells on the inflamed endothelial surface.

Integrins are a family of transmembrane glycoproteins that mediate cell-cell and cell-

substrate interactions[105]. They are intimately involved in the regulation of a variety of

cellular functions including embryonic development, metastasis, programmed cell death,

hemostatsis and leukocyte homing and activation. Each integrin is composed of an α and

β subunit that associate to form a non-covalently bound heterodimer. The β2 family of

integrins is exclusively expressed on leukocytes. The involvement of the leukocyte

integrin family β2 (CD18), in contrast to selectins, exhibit low binding avidity unless

activated[86, 106-109]. Endothelial ICAM-1 (CD54) is the principal ligand for the β2

integrins, LFA-1 (CD11a/CD18) and Mac-1 (cd11b/CD18). While many vessels

constitutively express ICAM-1, its expression is greatly increased following stimulation

with inflammatory mediators (e.g. IL-1β, TNFα, INFγ and endotoxin). β2 integrin

adhesion function can also be strengthened with cross-linking L-selectin [110-112] and

the leukocyte receptor(s) for E-selectin[113].

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Chemokines on the surface of endothelial cells are thought to trigger the rapid transition

of neutrophil rolling to stationary adhesion[108, 114] . The binding of integrins to

immunoglobulin superfamily members, such as ICAM1 and VCAM1, expressed by

endothelial cells during the rolling process, results in rapid increases in chemokines and

other chemoattractants. Modulation of the affinity of β2 integrin for its ligand is well

documented as a crucial step in chemokine-induced arrest under static conditions[115],

however the evidence documenting the role of surface bound chemokines in the transition

of rolling to stationary adhesion to endothelium under flow conditions in neutrophils is

less convincing[108].

Neutrophils have numerous ligands for selectins on their surface[116, 117] which may

not only be important in the tethering and rolling function but may also allow

transduction of signals for neutrophil activation[118]. For example, transient increases in

Ca2+

flux, the production of reactive oxygen species, IL-8 and TNFα have been observed

following L-selectin crosslinking [119, 120].

iii) Transendothelial Migration

A short time following arrest on the endothelial cells, most neutrophils begin to crawl,

searching for a gateway to cross the endothelium[121]. Transendothelial migration, also

referred to as diapedesis, is the step of leukocyte recruitment in which leukocytes move

across the endothelial cell layer toward a site of inflammation. While the preceding steps

(e.g. tethering, rolling, and firm adhesion) are reversible, diapedesis is the “point of no

return” for a leukocyte. While the events leading up to transendothelial migration are well

characterized in neutrophils, for instance, the selectin-mediated rolling and integrin-

mediated firm adhesion, controversy exists in the mode by which neutrophils migrate

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across the endothelium[122, 123]. Currently, two models for neutrophil transendothelial

migration have been proposed: (1) Paracellular migration and (2) Transcellular migration

Paracellular Migration: It is widely believed for years and popularized in review articles

that neutrophil migration across the endothelium is primarily paracellular with leukocytes

squeezing through and between adjacent endothelial cells[124, 125]. This involves

penetration (distruption) of the intercellular junctions (zonula occludens or tight

junctions; zona adherens or adherens junctions). Within the cleft, the neutrophil is

thought to interact with endothelial gap junctions and resident adhesion molecules

(PECAM-1 (CD31), CD99, JAMs) [126]. This model is supported by previous electron

microscopic observations of neutrophil transmigration in in vivo models of inflammation.

Transcellular Migration: By this pathway, neutrophils migrate through an individual

endothelial cell. More recently, Feng and colleagues [127] showed that neutrophils

migrate through the endothelium of inflamed venules via a transcytotic pathway in vivo.

In particular, the activation state of endothelial cells, and the ICAM-1 expression level

appears to influence whether migrating leukocytes take the paracellular or the

transcellular pathway. Yang et al.[128] reported that human neutrophils preferentially

utilize the paracellular pathway to cross a monolayers of cultured human endothelial

cells, when endothelial cells are stimulated in vitro for 4 h with tumor necrosis factor-

α[128]. However, 24 h stimulus with this cytokine, which strongly up-regulates ICAM-1

expression, shifted the ratio of transmigrating neutrophils towards the transcellular

pathway, with up to 20% of the cells taking the non-junctional route[128].

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C. The Role of the Cytoskeleton

The driving machinery of neutrophils is the classical and ubiquitous contractile protein

actin. In the resting spherical cell, the actin exists in two forms, globular monomeric (g-

actin) and polymerized, filamentous actin (F-actin), with the polymerized form primarily

located at the cell periphery[129]. Upon stimulation, nearly all of the g-actin rapidly

polymerizes, and as the cell migrates forward, a seemingly constant amount of

polymerized actin (F-actin) remains towards the front leading edge[129]. The filamentous

actin is then crosslinked into bundles and networks by actin binding proteins. This allows

the cell to tailor the dimensions and mechanical properties of the bundles to suit specific

biological functions[130, 131]. Examples of actins binding proteins include filamins, α-

actinin, fibrins, and spectrins.

D. Cell Morphology changes

Neutrophils are spherical in shape when in suspension, but when they are allowed to

adhere to a surface, the cytosol spreads from the contact site in all directions with no

obvious polarity. The presence of a chemical stimuli results in the neutrophil rapidly

organizing itself into a clearly defined polarized structure which is essential for cell

motility. The polarized structure consists of a leading edge “lamellipodium”, and a

trailing end also known as the uropod. The lamellipodium present at the leading edge of

the mobile cell is made up of an actin mesh which is believed to be the actual motor that

pulls the cell forward during migration[132]. Within the lamellipodium are small, finger-

like projections of actin filaments which, when spread beyond the lamellipodium frontier

are called filopodia[132]. Filopodia are thought to be responsible for probing the

extracellular milieu and detecting the chemical gradient[133]. On the other end of a

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polarized neutrophil, myosin-based contraction and retraction of the uropod facilitates

substrate de-adhesion, resulting in forward propulsion.

E. Chemotaxis

Neutrophil chemotaxis involves a complex array of individual components, leading to an

organized development and dissolution of actin filaments and focal adhesions along a

highly structured cytoskeletal network, as well as contractile processes that operate in a

coordinated manner along the length of the cell.

i) The Rho Family of Small GTPases:

The Rho family of small GTPases have been shown to play pivotal roles in regulating the

biochemical pathways involved in cell migration [134]. They constitute a family of

intracellular messengers that are regulated both by their location and state of

activation[135].

Rho-related small GTPases, including Rho, Rac, and Cdc42, play key roles in regulating

cell shape, motility, and adhesion through the reorganization of the actin

cytoskeleton[136]. Small GTPases are monomeric guanine nucleotide-binding proteins

(molecular masses=20-25 kDa) that serve as molecular switches to regulate growth,

morphogenesis, and cell motility. The Rho family of small GTPases is of special interest

because they transduce extracellular stimuli into intracellular signals. Small GTPases

cycle between inactive (GDP-bound) and active (GTP-bound) states. Following

stimulation, GTPases release GDP and bind to GTP, a reaction mediated by guanine

nucleotide exchange factors (GEFs). In their active GTP-bound state, Rho GTPases

interact with a variety of effector proteins to promote cellular responses. The active state

of GTPases is transient because of their intrinsic GTPase activity, which is stimulated

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further by GTPase activating proteins (GAPs).Guanine nucleotide dissociation inhibitors

(GDIs) are thought to block the GTPase cycle by sequestering and solubilizing the GDP-

bound form [137],[138] . Upon activation, the RhoGTPases become prenylated allowing

them to translocate and anchore to the plasma membrane where they can then interact

with cellular target proteins (effectors) to generate a downstream response[139]. The

three main RhoGTPases are Rac (Rac1 and Rac2), Cdc42, and RhoA. In general, Rac

localizes to the leading edge of a migrating cell and its primary role is to generate a

protrusive force through the localized polymerization of actin to generate lamellipodia.

Specifically, it has been shown that the two Rac isofoms, Rac1 and Rac2, play distinct

roles in neutrophils during immune cell function, including cell migration and bacterial

killing[140, 141]. While Rac1 has been shown to be essential for neutrophil

chemoattractant gradient detection and orientation toward the chemoattractant source,

Rac2 is the primary regulator of actin assembly providing the molecular motor for

neutrophil translocation during chemotaxis[141].

Cdc42 also induces actin polymerization to generate filopodia observed at the leading

edge, but also plays a crucial role at the front of cells in controlling the direction of

migration. RhoA on the other hand, localizes to the rear of the migrating cell and is

associated with regulating the assembly of contractile, actin:myosin filaments necessary

for cell body contraction and rear end retraction [26, 133, 136, 142]. Similar to other

motile cells, dynamic reorganization of the neutrophils actin cytoskeletion allows for

changes in cell shape and also generates the forces necessary for cell locomotion.

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F. Neutrophil chemoattractants

Neutrophils respond to a variety of soluble stimuli including those that act on seven

transmembrane-spanning domain receptors (f-met-leu-phe, C5a, IL-8, Substance P, PAF)

and those that are receptor independent (the phobol esters, PMA)[143]. These agents

increase random neutrophil motility when in the absence of a chemoattractant gradient

[144](chemokinesis) and also direct the migration of the neutrophil towards the source in

the presence of a chemoattractant gradient (chemotaxis). The majority of neutrophil

chemotaxis studies use fMLP as the stimulus. Unlike mammalian protein synthesis in

which methionine is the “starter” amino acid, in bacteria the methionine is

formylated[145]. This difference allows neutrophils to detect bacteria at a distance[146].

This mechanism may be the most important in the body, since it does not rely on the

cooperation of other cells or systems. All of the agonists stimulate, as an early event, the

hydrolysis of PIP2 with the consequent generation of IP3 leading to Ca2+

mobilization[147]. Another response to a chemotactic agonist is activation of tyrosine

kinases, resulting in the tyrosine phosphorylation of multiple intracellular substrates[148-

150].

G. Phagocytosis

Following extravasation from the circulation and chemotaxis to the site of infection, the

neutrophil arrives at the location and encounters the invading microbe. The process of

phagocytosis may be divided into recognition and attachment of a particle to the surface

of the phagocyte and internalization of the bound particle[151-153]. In contrast to

attachment, engulfment is a process that requires energy from glycolysis. Physiologically,

the particle to be internalized will be opsonized, meaning that it will be coated with a

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33

molecule for which the neutrophil has receptors[151, 152]. There are essentially two

types of opsonization, either with the complement fragment C3bi or with antibodies

specific for antigens on the particle surface, thus displaying the Fc region of the antibody

to the neutrophil. Interaction between the opsonic ligands and their receptors on the

neutrophil surface induces a circumferential flow of phagocyte membrane which

gradually surrounds the microorganism to be ingested. The elaborated pseudopod meet in

a single point, and fusion of opposing membranes at this point pinches off the resulting

phagosome into the cytoplasm [153, 154].

H. Neutrophil Respiratory Burst Oxidase

The normal function of neutrophils is to protect the individual from infection by seeking

out and destroying invading microbes. These cells possess a membrane-bound enzyme

system which can be activated to produce toxic oxygen radicals in response to a wide

variety of stimuli[153].

The enzyme responsible for the respiratory burst in neutrophils is the membrane bound

multi-component NADPH-oxidase, which consists of a membrane-spanning electron

transport chain, with cytosolic NADPH as the electron donor and oxygen as the electron

acceptor[155]. In unstimulated resting neutrophils, this NADPH-oxidase system is

normally dormant. The activation of this system can be triggered by phagocytosis or by a

number of other soluble physiological or experimental agents such as the complement

fragment, C5a, fMLP, platelet activating factor and PMA[156]. Once this system is

triggered, the enzyme system is rapidly activated in the walls of the phagocytic vacuole,

where electrons are shuttled from cytosolic NADPH to oxygen present in the

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34

extracellular fluid. Under normal circumstances, one single electron is donated to

molecule of oxygen. This results in the generation of one molecule of superoxide (O2.-).

The overall reaction catalyzed by the oxidase is:

2O2 + NADPH 2O2. -

+ NADP+ + H

+

The 2 molecules of superoxide (O2. -

) then interact either spontaneously (dismutase

reaction) or enzymatically to form one molecule of hydrogen peroxide (H2O2):

2O2. -

+ 2H+ H2O2 + O2

Further reactions of O2. –

and H2O2 are possible and in the presence of transition metals

such as iron and copper salts a complex series of redox reactions is seen to occur with the

generation of other more powerful reactive oxidant species such as the hydroxyl radical

(OH.)[157, 158].

O2. -

+ H2O2 OH. + OH

- + O2

The bulk of the O2. –

generated by triggering the NADPH-oxidase system dismutates to

H2O2.

The heme protein myeloperoxidase is found in the azurophilic granules of neutrophils.

This enzyme can use Cl-, Br , or I as a reducing substrate to greatly potentiate H2O2

toxicity by converting it into hypocholorous acid (HOCl)[159]. HOCl is the major

hypohalous acid produced during neutrophil oxidase activation because the plasma

concentration of Cl- is more than a thousand times that of other halides[143]. HOCl is an

extremely potent cytotoxin for bacteria, viruses, fungi, mycoplasmas and cultured

mammalian cells[152].

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I. Oral Neutrophils as a Diagnostic Test

Recent research from our lab and others suggest that the mouth provides an opportunity to

monitor the innate immune system non-invasively through the use of an oral rinse that

measures oral neutrophil levels[160-162] . The underlying principle of this test is that for

normal innate immunity, neutrophils must be able to enter the bacteria-rich oral cavity in

sufficient numbers to maintain health. Any defects in this normal recruitment can be

monitored using a standardized rinse test to quantify oral neutrophil levels much like a

standard complete blood count. During infections or following surgery neutrophil levels

spike indicating an active immune and healing response. In addition to using an oral rinse

to monitor periodontal disease [163] we have also used an oral rinse assay to monitor

susceptibility to infection and acute neutropenia (low blood neutrophil counts) during

hematopoietic stem cell transplantation. We have confirmed that oral neutrophil levels can

be used to monitor and report on the state of the innate immune system in pediatric and

adult patients with successful bone marrow transplants [161, 162, 164] .

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Hypothesis and Objectives of Thesis

Bisphosphonate-associateed osteonecrosis of the jaw (BPONJ) has been identified as a

severe complication of dental treatment and oral trauma in 1-10% of patients previously

treated with intravenous bisphosphonates[165]. It is believed that in the subset of

susceptible patients, bisphosphonates perturb normal osseous wound healing through

inhibition of osteoclast formation and function. However, it has been noted that necrotic

bone from ONJ sites also display signs of bacterial infection that suggest to us that an

immune defect may play a role in BPONJ pathophysiology in affected patients [166]. This

thesis focuses on the possible role of neutrophils which are critical elements of normal

wound healing, particularly in the oral cavity where bacterial biofilms have such a strong

impact on oral health and disease. This thesis determined in a novel fashion whether

bisphosphonates alter neutrophil function and if this defect could explain the development

of BPONJ, and the physiological mechanisms through which bisphosphonates mediate

BPONJ in susceptible patients. This thesis tested the novel hypothesis that bisphosphonates

dampen neutrophil functions in an animal and human model and may result in poor innate

immunity and an increased risk of BPONJ following oral surgery or trauma. The specific

objectives of this thesis were:

Objective 1). Determine if bisphosphonates cause functional defects in neutrophils

i) Analyze neutrophil functions in mice treated with the bisphosphonate zoledronate.

Neutrophils will be isolated from mice treated one month previously with a single

dose of zoledronate. Using standard neutrophil function assays for chemotaxis

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37

[141, 167] and NADPH oxidase function, we will characterize the effect of

previous BP therapy on neutrophil functions in vitro. The neutrophil function

results from the in vitro assays will be confirmed in vivo using standard murine

acute models that measure neutrophil influx into inflamed/infected sites and

neutrophil mediated bacterial killing efficiency in those sites.

ii) Analysis of neutrophil functions from patients being treated with

bisphosphonates. In order to determine if neutrophil functions are impaired by BP

therapy, blood neutrophils will be isolated from patients diagnosed with BPONJ.

In vitro functional tests (as in i, above) will be used to monitor and compare

neutrophil functionality during the high dose BP therapy.

iii) Analysis of neutrophil delivery to in the oral cavity in patients diagnosed with

BPONJ

In order to determine if neutrophil delivery in the mouth is impaired in patients

diagnosed with BPONJ, oral rinses will be collected from these patients and

compared to healthy controls.

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CHAPTER 2

MATERIALS AND METHODS

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39

2.1 Antibodies and reagents

A mouse monoclonal antibody against Rho A (sc-418) and a mouse monoclonal

antibody against Cdc42 (B-8) were purchased from Santa Cruz Biotechnology (Santa

Cruz, CA). A mouse monoclonal antibody against Rac was purchased from Upstate Cell

Signaling Solutions (Charlottesville, VA). The QIAamp DNA Blood Extraction mini

Kit(Cat.no.51104) was purchased from QIAGEN (Santa Clarita, CA). N-formyl-

methyonyl-leucyl-phenylalanine (fMLP) and Percoll were purchased from Sigma (St

Louis, MO). Glutathinone-Sepharose beads, horseradish peroxidase-coupled anti-mouse

antibody and horseradish peroxidase-coupled anti-Rabbit antibody were purchased from

Amersham Pharmacia Biotech UK (Buckinghamshire, England). 50X protease inhibitor

cocktail was purchased from BD PharMingen.

2.2 Animals

All experiments were performed with 3-month old mice bred at the University of Toronto

Animal Care Facility. All procedures were carried out in accordance with the Guide for

the Humane Use and Care of Laboratory Animals, and were approved by the University

of Toronto Animal Care Committee.

2.3 in vivo zoledronate treatment

Using a modification of a previously described rat protocol [168, 169], 3 month old mice

were treated with 2 or 20µg of Zoledronate or vehicle alone. The dosing was based on the

recommended human therapeutic dose of 4mg every 4 weeks. Thus the dose on a µg

ZOL per gram BW basis (assuming an average weight of 60Kg) is 4,000µg ZOL divided

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40

by 60,000g BW = 0.06667µg/g. For a 30g mouse then the equivalent dose would be

2µg/mouse. The higher dose was used to model longer durations of treatment.

2.4 Isolation of murine bone marrow neutropihls

As described previously[170], mouse neutrophils were isolated from the bone marrow of

mice which is the primary neutrophil storage site in the mouse. Briefly, Zoledronate

treated or the vehicle control treated mice were euthanized by cervical dislocation. The

femur and tibia were dissected, cut proximally and distally, and flushed with ice-cold 1x

HBSS (supplemented with 10 mM HEPES, pH 7.5), and the eluant was centrifuged at

2,600 rpm for 30 min at 4 °C, and layered over a three-layer Percoll gradient (52, 65, and

85%). The neutrophil-rich fraction was then collected at the interface of the 65 and 85%

layers, resuspended in 1x HBSS, and centrifuged at 1,500 rpm for 5 min at 4 °C. Pelleted

cells were resuspended in 1x HBSS containing 2.5% heat-inactivated fetal bovine serum

and used immediately. The murine neutrophil isolation protocol routinely yields cell

suspensions that are >90% neutrophils with >98% viability as judged by Wright stain and

trypan blue exclusion, respectively. All of the neutrophil studies are carried out at 37 °C.

2.5 Measurement of NADPH oxidase activity

Neutrophil associated oxidant content was measured using dihydrorhodamine 123 (DHR;

Molecular Probes, Eugene, OR). Isolated bone marrow neutrophils were incubated in the

presence of 1 mM DHR for 15 min, followed by incubation with 10-5

M PMA and 10-6

M

fMLP. Cell-associated fluorescence was then measured 10 min later using a flowcytometer

[171].

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41

2.6 Zigmond chamber chemotaxis

To assess activation and determine whether there was a chemotactic defect,

isolated bone marrow neutrophils were suspended in HBSS and 1% gelatin. A neutrophil

suspension (1 x 106/mL) was allowed to attach to

bovine serum albumin (BSA)–coated

glass coverslips (22 x 40 mm) at 37°C for 20 minutes. The coverslip was inverted

onto a

Zigmond chamber, and 100 µL HBSS media was added to the left chamber with 100 µL

HBSS media containing fMLP[10

-6] added to the right chamber. Time-lapse video

microscopy was used to examine neutrophil movements in the Zigmond chamber.

The

images were captured at 20-second intervals with Nikon Eclipse E1000 Microscope.

Cell-

tracking software (Retrac version 2.1.01 Freeware) was used to characterize cellular

chemotaxis from the captured images.

2.7 Sodium periodate peritonitis

To induce an experimental peritonitis, 1 mL of 5 mM sodium periodate (Sigma,

Oakville, ON, Canada) in phosphate-buffered saline (PBS) was injected intraperitoneally.

The mice are then euthanized 3 hours later and the peritoneal exudate is collected by lavage

with chilled PBS (5 mL/mouse). Neutrophils were counted by a hemocytometer

and an

electronic cell counter (Becton Dickinson). The neutrophil numbers between the BP treated

mice and the vehicle controls are compared to their untreated (no peritonitis) controls.

2.8 Circulating neutrophil levels

Prior to euthanasia, 200 l of blood was taken from the great saphenous leg vein of the

mouse. A complete blood count was measured using a hemavet (Hemavet®950, Drew

Scientific, Oxford, CT).

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2.9 GST-Pull down Assay

The Pak-binding domain (PBD) and Rhotekin-binding domain (RBD) assays

were carried out as described previously[172]. Briefly, isolated bone marrow neutrophils

were exposed to Zoledronate (20 M) for 15 minutes, followed by a one minute

exposure to fMLP(10-6

M) at 37°C. They were immediately lysed with and glutathione-S-

transferase (GST)–PBD or GST-RBD

beads (Amersham Pharmacia Biotech

Buckinghamshire, England) were added to the lysates. The GST-PBD or GST-RBD were

recovered with Sepharose beads and immunoblotting was completed using either a Cdc42

antibody

(B-8; Santa Cruz Biotechnology), Rac antibody (Upstate Cell Signaling

Solutions (Charlottesville, VA), or a RhoA antibody (sc-418; Santa Cruz Biotechnology).

Image J software version 1.31v

(National Institutes of Health) was used for blot

densitometry. Data were normalized to resting control neutrophils and are

expressed as

the mean value from 3 separate experiments.

2.10 Apoptosis Assay

The percentage of apoptotic neutrophils was determined by Annexin-V staining

using the Annexin V-FITC Apoptosis Detection Kit from BioVision according to the

manufacturer's protocol. Stained cells were analyzed by FACS and cells positive for both

annexin-V and propidium iodide (PI) or annexin-V alone were considered apoptotic.

2.11 In vitro generation of neutrophils

Hematopoetic progenitors were isolated from bone marrow using the EasySep™

Hematopoietic Progenitor Enrichment kit from Stemcell technologies (Vancouver,

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43

Canada). Stem cells were subsequently differentiated into neutrophils as described

previously [173]. In brief, progenitors were cultured for 3 days in IMDM (Gibco), 10%

fetal calf serum (FCS), 50 uM beta-mercaptoethanol, 10 u/ml pencillin/streptomycin, 2 mM

glutamine, SCF, 50 ng/ml), FLT-3 (50ng/ml), GM-CSF (0.1 nM), IL-3 (0.1 nM) and G-

CSF (30 ng/ml). After this initial period the medium was replaced every 3 days with

medium containing only G-CSF (30ng/ml). Cells were harvested between day 9 and 12 (as

mentioned in the results section).

2.12 BPONJ patient selection

Five patients diagnosed with bisphosphonate-induced osteonecrosis of the jaw

and three patients diagnosed with osteoradionecrosis were recruited from the dental clinic

at Sunnybrook Health Sciences Centre in Toronto, Canada by dental staff practitioners.

The patients diagnosed with BPONJ met the criteria for diagnosis set by the

AAOMS[77]. This study was run in accordance with the institutions Research Ethics

Board-approved protocols and after informed consent had been obtained.

2.13 Patient Blood Neutrophil Isolation and chemotaxis

A 10-ml blood sample was drawn into an EDTA-containing vacutainer. Neutrophils

were isolated using a one-step neutrophil isolation solution. Briefly, 4 ml of the blood was

layered carefully over 4 ml of Optiprep (Sigma, Oakville CA), and the tube was centrifuged

at 1,600 revolutions per minute (rpm) for 30 minutes at 4C. The neutrophils were harvested

from the lower of two bands and washed by centrifugation with Hanks balanced salt

solution at 2,500 rpm for 5 minutes. Any remaining red blood cells were lysed with 1 ml

distilled water, and a neutrophil-rich pellet is obtained by centrifugation at 2,500 rpm for 5

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44

minutes. The cells were resuspended in 1 ml Hanks balanced salt solution. A cell count was

obtained with a hemocytometer. This method yields neutrophils with >95% cell viability as

determined by trypan blue staining.

To assess activation and determine whether there was a chemotactic defect, isolated

neutrophils were placed into the upper well of a transwell chamber which is separated from

the bottom chamber, containing vehicle alone or 10-6

M fMLP (Sigma) and a glass cover

slip, by a membrane with 3 micron pores (COSTAR). The transwell plates were placed at

37C for 1 hour and cells migrating through the membrane and onto the bottom cover slip

were washed once and quantified. Chemotaxis was assayed by counting the mean number

of cell per field over 6 fields [174].

2.14 Patient Oral Rinse Samples

The neutrophils from the oral cavity were collected following a one-minute oral

rinse with 5-ml of a sterile bicarbonate solution. One rinse was collected from each patient

in a sealable falcon tube and immediately transported to the Glogauer laboratory at the

University of Toronto for analysis. Neutrophils in each oral rinse sample was quantified

using the acridine orange staining technique [162]

. This technique gives a very characteristic

fluorescent bi-lobed nuclear staining pattern in neutrophils facilitating easy identification

and counting on a hemocytometer chamber.

2.15 Statistics

Normally distributed data were analyzed by unpaired Student‟s t tests. Analysis of

variance (ANOVA) with Bonferroni correction was used for multiple comparisons.

A P value of <0.05 was considered to be significant. Data are expressed as mean ± SD

unless indicated otherwise.

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CHAPTER 3

RESULTS

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RESULTS

Although bacterial colonization is a common finding in patients with BPONJ, it remains

unclear whether infection plays a primary causative or is secondary to the appearance of

the lesion. We chose to test the hypothesis that zoledronate exposure leads to impaired

neutrophil function in an in vitro and in vivo murine model.

3.1 Effect of Zoledronate on in vitro Neutrophil Function

Isolated murine neutrophils exposed to increasing concentrations of zoledronate for 15

minutes showed a dose dependent decrease in neutrophil function (p<0.05). Both in vitro

chemotaxis speed (Figure 1A) as well as in vitro NADPH oxidase activity (Figure 1B)

were diminished with increasing concentrations of zoledronate (p<0.01), suggesting that a

brief direct exposure to the drug may not only detrimentally effect the neutrophils ability to

migrate to the site of infection but also diminish its ability to destroy the invader at the site.

3.2 Effect of Zoledronate on in vivo Neutrophil Function

To determine if in vivo zoledronate treatment has any residual effects of

neutrophil function, mice were treated 4 weeks prior to experimentation with 0, 2 or 20g

of Zoledronate. While a dose dependent relation was not observed with systemic

treatment of zoledronate, an obvious decrease is chemotaxis speed was observed in mice

treated previously with zoledronate at both 2 and 20µg (p<0.05). Both sodium periodate-

induced in vivo neutrophil recruitment (Figure 2A) as well as fMLP-mediated in vitro

chemotaxis (Figure 2B) show decreases in neutrophil chemotaxis speed (p<0.05).

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3.3 RhoGTPase Assay

As bisphosphonates have been well documented to inhibit a crucial step in

RhoGTPases prenylation, we hypothesized that zoledronate treatment may affect the

function of these key signaling proteins involved in neutrophil function. As indicated in

Figure 3, while fMLP activation of Rac1, and Cdc42 was normal in cells pretreated with 20

micromolar zoledronate for 15 minutes in vitro, RhoA activity downstream of fMLP was

depressed by almost 50% at the same 20 micromolar zoledronate dose (P<0.05). This data

confirms that this bisphosphonate can affect a key regulator of neutrophil functions.

3.4 Effect of Zoledronate on Circulating Neutrophil Counts

While abnormalities in bacterial colonization and impaired wound healing

observed in patients with BPONJ may be related to neutrophil functional defects, one

must also consider a possible defect in circulating neutrophil numbers. Neutropenia was

observed in mice 2-weeks following a 2 micromolar pretreatment with zoledronate

(P<0.05) (Figure 4). This finding led us to consider the possibility that zoledronate may

decrease neutrophil survival and/or neutrophil differentiation in the bone marrow.

3.5 Effect of Zoledronate on Neutrophil Differentiation and Survival

In order to verify that zoledronate could impact neutrophil differentiation in the

bone marrow we used a standard in vitro neutrophil differentiation assay to monitor

neutrophil differentiation in the presence of this commonly used bisphosphonate. Control

stem cells were differentiated into neutrophils for 12-14 days in the presence of G-CSF.

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During this differentiation period, cells were treated with varying concentrations of

zoledronate. After 12 and 14 days of differentiation, cells were analyzed by Diff-Quick

staining. Figures 5A illustrates a dose dependent decrease in viable mature neutrophils

(dark blue nucleus) with increasing zoledronate concentration, suggesting that zoledronate

exposure leads to increased cell death during neutrophil differentiation in vitro (p<0.05).

We were also interested in determining if ZOL‟s effect on neutrophil survival during

differentiation is irreversible in nature. Stem cells from mice pre-treated 4 weeks prior with

ZOL were isolated in vitro and differentiated into neutrophils for 10-12 days in the absence

of ZOL. Figure 5C illustrates that stem cells from zoledronate-pretreated mice („Z-M‟) are

able to differentiate normally in vitro with similar survival rates as control cells (“C-M‟) if

zoledronate is absent during differentiation. However, the addition of zoledronate to control

stem cells during in vitro differentiation increases the number of apoptotic events (Figure

5C; “C-M+ZOL”) (p<0.05). These results suggest that ZOL must be present during

neutrophil differentiation to affect mature neutrophil survival.

We also determined that a key growth factor, G-CSF must be present in the immediate

environment in order for us to observe the negative affects ZOL has on mature neutrophil

survival. When mature neutrophils were isolated from ZOL pre-treated mice and left to

undergo physiologic apoptosis, there was no difference in levels of apoptosis compared

with control cells (Figure 5D). However, when G-CSF was added to the media, increased

levels of neutrophils apoptosis was observed (Figure 5E).

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3.6 Blood neutrophil chemotaxis in BPONJ patients

In order to determine if a similar neutrophil chemotaxis defect is observed in a human

disease model, blood samples were taken from five patients diagnosed with BPONJ, three

patients with diagnosed ORN and three control patients. Neutrophils were isolated and their

ability to migrate through a porous membrane was measured using fMLP as a

chemoattractant in a Boyden chamber set-up. Significantly fewer numbers of neutrophil

from BPONJ patients were observed to migrate toward the fMLP stimulus compared with

control neutrophils and ORN neutrophils (p<0.05) (Figure 6A).

3.7 Oral neutrophil recruitment in BPONJ patients

To determine if the in vitro defects manifest as reduced neutrophil function in the

oral cavity in these patients, we used an oral rinse protocol to quantify neutrophil delivery

to the oral cavity. Figure 6B illustrates a trend toward increased neutrophil delivery to the

oral cavity in patients with BPONJ as well as ORN, however significance was not

achieved for either group (p>0.05).

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FIGURES

Figure 1-Effect of Zoledronate on in vitro neutrophil chemotaxis (A) and NADPH oxidase activity (B):

In order to determine if Zoledronate had a direct effect on neutrophil functions, mature neutrophils were

isolated from mouse bone marrow as described previously [141] . Neutrophils were treated for 15 minutes at

the indicated concentration of Zoledronate followed by the assessment of either A) fMLP mediated

chemotaxis in a Zigmond chamber or B) fMLP mediated NADPH oxidase activity. As indicated in A and B,

zoledronate inhibits both fMLP mediated chemotaxis in a dose dependent manner and NADPH oxidase

activity. [All experiments were repeated 3 times with each experiment using 3 mice per group. Errors are

standard deviation and all points are significantly different from control p<0.01].

Figure 2-Effect of in vivo Zoledronate treatment on A) in vitro chemotaxis and B) in vivo peritoneal

recruitment: A) In order to determine if in vivo Zoledronate treatment had a residual effect on in vitro

neutrophil functions, mature neutrophils were isolated from bone marrow of 4 month old mice treated 30 days

previously with 0, 2 or 20 micrograms of Zoledronate [168, 169]. fMLP mediated neutrophil chemotaxis was

assessed in a Zigmond chamber [167]. As indicated in A) zoledronate given 30 days prior has a residual

inhibitory effect on neutrophil chemotaxis. B) In order to verify these results, the same mouse treatment and

Zoledronate dosage protocol was used to test in vivo neutrophil recruitment to sites of inflammation. Briefly a

peritonitis model was used in which an irritant (sodium periodate) is injected into the peritoneum and 3 hours

later the cellular infiltrate is collected and quantified [141, 175]. In this model greater than 95% of cells

collected are neutrophils. As indicated in B, mice previously treated with Zoledronate display a clear

reduction in neutrophil recruitment to the inflamed peritoneum. [All experiments were repeated 3 times with

each experiment using 3 mice per group. Errors are standard deviation and all points are significantly

different from control p<0.01].

Effect of Zoledronate on in vitro chemotaxis Effect of Zoledronate on in vitro NADPH activity

*

*

*

* * * *

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Figure 3- Possible mechanisms through which ZOL affects neutrophil functions: In order to verify that

Zoledronate could affect key signaling proteins involved in neutrophil functions we measured

chemoattractant mediated Rho small GTPase activity in neutrophils treated with Zoledronate in vitro. As

indicated in this figure, while fMLP activation of Rac1, and Cdc42 was normal in cells pretreated with 20

micromolar Zoledronate for 15 minutes, Rho activity downstream of fMLP was depressed by almost 50% at

the same 20 micromolar Zoledronate dose. This data confirms that this bisphosphonate can affect a key

regulator of neutrophil functions. Errors are standard deviation and * is different from control p<0.01]

Figure 4-Effect of zoledronate on circulating neutrophil levels: In order to determine if Zoledronate had

a direct effect on neutrophil numbers, circulating blood was collected from 4 months old mice that had

been pre-treated with a 2mg dose of zoledronate 2 weeks prior and compared with controls. A significant

decrease in circulating neutrophils is observed following zoledronate treatment, suggesting that zoledronate

may be either causing early apoptosis of cells or is negatively affecting the production of neutrophils.

[Experiments were repeated 2 times with each experiment using 5 mice per group. Errors are standard

deviation and ( *) is significance at p<0.05].

*

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Figure 5: Effect of Zoledronate on differentiation and apoptosis of mature neutrophils -In order to

determine if zoledronate treatment has an effect on neutrophil differentiation and apoptosis, we quantified

the numbers of mature cells that had been derived from either (A-C) in vitro neutrophil differentiated

precurors cells or (D, E) mature neutrophils extracted from bone marrow . (A) In order to determine if

Zoledronate could impact neutrophil differentiation in the bone marrow we used a standard in vitro

neutrophil differentiation assay to monitor neutrophil differentiation in the presence of this commonly used

bisphosphonate. Bone marrow cells were harvested from 3 control mice and hematopoetic progenitors were

isolated using a negative selection kit from StemCell Technologies. Progenitors were cultured for 3 days in

IMDM medium containing 10% FSC, 50 μM β-mercaptoethanol, SCF (50 ng/ml), FLT-3 (50 ng/ml), IL-3

(10 ng/ml), GM-CSF (1 ng/ml) G-CSF and (30 ng/ml). The medium was replaced every three days with

IMDM medium containing 10% FSC, 50 μM β-mercaptoethanol, G-CSF (30 ng/ml) and Zoledronate (1,

10, 50 and 200 μM). After 12 and 14 days the differentiation of neutrophils was assessed by Diff-quick

staining. The panels in A, shows representative images of Diff-quick stained cells after 12 days in vitro.

Live cells stain with a dark blue nucleus, while dead cells stain with a pale blue nucleus. Cells were

counted in 4 random fields and the percentage of neutrophils was calculated for 12 days. As demonstrated

in this figure zoledronate reduces mature neutrophil survival in a dose dependent manner, but does not

appear to affect neutrophil differentiation since similar numbers of total cells are present (live and dead)

compared with control. (B) Quantification of the percentage of cells that have undergone mature

C-M Z-M C-M +ZOL

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neutrophil apoptosis in response to increasing concentrations of zoledronate during the process of

differentiation. A significant increase in apoptosis compared with control is observed when neutrophils are

differentiated in the presence of zoledronate concentrations greater that 10uM. (C) Progenitors from 3 mice

pretreated with 2ug of zoledronate 2 months prior („Z-M‟) and 3 control mice („C-M‟) were differentiated

similar to that in (A) but without the addition of zoledroante to the media. No significant difference is noted

in neutrophil survival between (Z-M and C-M). As a positive control, 3 control mice were differentiated in

an exact manner as was performed in (A) in the presence of 20 uM zoledronate (C-M + Zol). The presence

of ZOL to the media during differentiation leads to increase neutrophil apoptosis. (D) Mature neutrophils

were extracted from the bone marrow of mice that had been pre-treated 2 weeks prior with 2ug of

zoledronate and subjected to a spontaneous 20H apoptosis assay in the absence of G-CSF. The levels of

apoptosis were not significantly different („NS‟) between mature neutrophils from control and zoledronate

pre-treated mice. (E) Mature neutrophils were extracted from the bone marrow of mice that had been pre-

treated 2 weeks prior with 2ug of zoledronate and subjected to a spontaneous 20H apoptosis assay in the

presence of G-CSF (30 ng/ml). Zoledronate pre-treated mice in the presence of G-CSF show significantly

higher levels of apoptosis of mature neutrophils compared with control mice. These levels of apoptosis are

similar those observed during the in vitro differentiation of precursors cells in (A). Annexin-positive but PI-

negative cells are defined as early apoptotic cells, whereas annexin -positive and PI-positive cells are

defined as late apoptotic cells. [Experiment was preformed with n=4 per group. Errors are standard

deviation and * is significance of p<0.05].

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Figure 6 (A) Neutrophil Chemotaxis is perturbed in BPONJ patients. The final data that confirms that

there is value in testing the novel hypothesis proposed comes from comparing neutrophil chemotaxis in

control neutrophils, patients with osteoradionecrosis (ORN) and from patient with bisphosphonate induced

osteonecrosis of the jaw (BPONJ). We measured the neutrophils ability to migrate through a porous

membrane using fMLP (10-6M) as a chemoattractant in a Boyden chamber set-up. Neutrophils from 5

patients with BPONJ were analyzed and compared with neutrophils from 3 patients with ORN and 3 healthy

control patients for migratory impairments. Cells that migrated through the 3μm pores were DAPI-stained,

and 5 random fields of view (FOV) were counted using a fluorescent microscope under 40X magnification.

The level of migration was expressed as the average number of neutrophils per FOV. Control, ORN and

BPONJ neutrophils show significantly increased migration toward fMLP. However, significantly fewer

numbers of BPONJ neutrophils were observed to migrate toward the fMLP stimulus compared with control

neutrophils as well as ORN neutrophils, suggesting a neutrophil migratory defect in the BPONJ patients.

*p<0.05, error bars are S.D. (B) Oral neutrophil counts in BPONJ patients vs. healthy control patients-

Oral Neutrophils in the rinse samples were easily identified using the acridine orange staining technique

described previously[162]. The neutrophils were visualized with fluorescence microscopy and counted using

a hemocytometer. Although there was a trend toward increased neutrophil recruitment in the BPONJ and

ORN patients, the levels did not reach statistical significance with p>0.05, error bars are S.E.M.

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CHAPTER 4

DISCUSSION

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In recent years it has been noted that a small subset of patients (1-10%) treated with

intravenous bisphosphonates are at an increased risk of developing osteonecrosis of the

jaw (BPONJ) [4, 5]. The publicity surrounding this complication and the lack of

information about its underlying pathogenesis has led to apprehension amongst patients

and dental clinicians when treating patients with a history of bisphosphonate therapy [6].

4.1 Pathogensis

Several mechanisms by which bisphosphonates (BP) are thought to cause

bisphosphonate-induced osteonecrosis of the jaw (BPONJ) have been discussed in the

literature. Apart from the earliest idea that BPs lead to a decrease in bone remodeling due

to an increase in oseoclastic cell death, several other theories have emerged.

4.1-1 Anti-angiogenesis and Matrix Necrosis

One of such theories is the idea that the anti-angiogenic properties of the

bisphosphonates which compromise the blood supply in the bone, is the initiating event

of BPONJ[176]. Angiogensesis is the physiological process involving the growth of new

blood vessels from pre-existing vessels. There has been evidence that bisphosphonates

can interfere with the proliferation, adhesion, migration, and vessel sprouting of

endothelial cells thereby reducing the formation of new blood vessels[177],[178].

However the effects observed in the aforementioned studies were found at greater-than-

human equivalent dose, and have not been demonstrated in humans. The most recent

human study to support this theory looked at 31 patients with BPONJ who underwent jaw

bone biopsy and tissue sampling. Light microscopy and confocal scanning laser

microscopy examination demonstrated prominent and dense woven bone formation with

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fewer and distant blood vessels along with reduced osteoclastic activity. This study also

supported the notion that anti-angiogenic effects by BPONJ may be caused from an

ischemic necrosis due to the osteogenic and nonosteogenic expansion of the bone without

an increase in blood supply. The authors propose that this new dense bone with less blood

supply would eventually lead to necrosis and secondary infection [179].

With this being said, it is believed by some that these drugs have the potential to

cause avascular necrosis. This etiology has been reported to be unsubstantiated by many

who argue that if the bone was in fact avascular, the ONJ tissue should not bleed at the

time of surgery which has been reported [180]. As well, Hansen et al[181] noted patent

vessels in seven out of eight BPONJ cases studied histologically. The vascular supply of

the mandible is inherently restricted, and interferences with this blood supply. Moreover,

other more potent anti-angiogenic medications such as thalidomide, used for

chemotherapy, are not associated with BPONJ in humans[176].

In a beagle dog model of BPONJ, Burr and Allen [182] showed that bone matrix

necrosis occurs in bones with higher remodeling rates such as the jaw bone that has been

treated with with clinical doses of aledronate and zoledronate, while none of the control

animals in the study acquired osteonecrosis.

4.1-2. Bone Turnover and Microcracks

Another theory arises from the well documented mechanisms of action of the

bisphosphonates in reducing bone turnover. It is believed by some that an excessive

reduction in bone turnover exists in some individuals taking bisphosphonates leading to

an accumulation of microcracks. In essence, the microcracks may make the bone more

susceptible to necrosis when there is increased demand for osseous repair such as in cases

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of trauma to the jaw[176, 183, 184]. This theory is supported by a recent human study

using scanning electron microscopy[185]. Microcracks were present in 54% of patients

with BPONJ compared with 29% in patients without BPONJ but taking BPs, and 17% in

osteoporosis patients not taking BP, whereas no microcracks were observed in patients

with osteoradionecrosis of the jaw or osteomyelitis of the jaw without BP therapy.

The results of this study have been questioned by some who criticize the use of scanning

electron microscopy to evaluate microcrack damage. Allen [186] proposes that the gold

standard method for evaluating microdamage in bone is basic tuchsin staining, which

stains the bone prior to processing. Allen argues that the importance of staining

specimens prior to processing is that it allows separation of microcracks that existed prior

to processing and those that are due to specimen preparation. Without such staining, it is

impossible to know whether any damage is due to processing or not. In his own study,

Allen et al. [187] showed that three years of daily oral alendronate treatment in beagle

dogs increases microdamage in vertebral bone but does not significantly increase it

beyond levels of microdamage found after 1 yr of treatment. He suggests microdamage

accumulation peaks during the early period of bisphosphonate treatment and does not

continue to accumulate with longer periods of treatment.

Refuting the notion that BPs lead to increase in microcracks in bone is Chapurlat et

al[188] who examined transiliac bone biopsies from postmenopausal women and found

no significant differences in microcracks between these women and control groups

following at least 3 years‟ treatment with a bisphosphonate (3 subjects on I.V.

pamidronate, 37 on oral alendronate, and 10 on oral risedronate) despite a marked

reduction in bone turnover. A similar study was conducted by Stepan et al[189] where

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they compared transiliac bone biopsies from 38 postmenopausal women that were being

treated with daily or weekly doses of aledronate for at least 5 years. They found no

differences in crack density and crack surface density between the control and study

groups. A major drawback of these sudies however, is that the majority of the women in

the study population were on oral doses of bisphosphate rather than intravenous

administration of the drug. It is well documented that BPONJ is associated with

intravenous administration rather than oral administration [65, 184]. As well, the bone

examined in these studies were not taken from the jaw bone where BPONJ occurs.

One point to keep in mind is the idea that if reduced bone turnover was in fact the

etiology of BPONJ, it seems odd that other conditions associated with chronically

reduced bone turnover, such as hypoparathyroidism, do not show BPONJ-like

lesions[61].

Other compelling evidence suggests that bone turnover is not even reduced within

BPONJ lesions. Several groups[181, 190, 191] have observed deep osteoclastic pits in

BPONJ lesions, as well, Hansen et al.[181] showed up to a four-fold increase in

osteoclast number in BPONJ patients compared with those from osteoradionecrosis and

control patients suggesting that bone turnover is not suppressed at sites of BPONJ.

Enhanced bone turnover has also been demonstrated with bone scintigraphy, where Abu-

Id et al. found that areas of necrotic bone had increased tracer uptake in 15 of the 16

BPONJ subjects examined[74].

4.1-3. Soft Tissue Toxicity

Soft tissue toxicity to the oral mucosa may lead to compromised healing of

traumatic lesions that arise in the soft tissue, with extension of the lesion to the

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underlying bone[192]. Much of the focus of BPONJ has centered upon bisphosphonates

and bone, an „inside-out‟ theory. However the toxic effects of bisphosphonates on

traumatized oral epithelium may play a critical role in the development of BPONJ, a so-

called “outside-in” hypothesis. Several studies have confirmed that idea that BPs can

negatively affect the function of several cell types including macrophages, periodontal

ligament fibroblasts [193], endothelial cell[177, 194-196], a variety of tumor cells,

osteoblasts and epithelial cells[197-199]. Bisphosphonate toxicity to epithelial cells is a

well documented side effect with the use of oral nitrogen-bisphosphonates with the

formation of gastric erosions and ulcers. Coxon et al[200] explored the idea that

bisphosphonates on bone surfaces are toxic to adjacent cells. Interestingly, they observed

that when the bisphosphonates were not bound to bone but present free in solution, they

appeared to have toxic affects on cells. However, when the bisphosphonates were in the

presence of bone, the toxicity was greatly reduced, suggesting that the when the

bisphosphonates are bound to bone, they are unable to concentrate and toxify the

surrounding cells. On the other hand, when osteoclasts were added to the cultures in an

attempt to simulate a normal physiologic environment, the bisphosphonates were

mobilized from the bone and began to concentrate in the surrounding solution leading to

toxicity in the adjacent cells[201].

With respect to bone, the amount of drug that is deposited in the maxillofacial bones is

unknown. Likewise, the amount of active bisphosphonate present in the gingival

crevicular fluid is unknown, however the presence of active periodontal disease would be

expected to increase the level of bisphosphonates in the area[61].This is supported by

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Marx [176], who suggests that approximately 85% of affected patients have had

peridontitis during the diagnosis of BPONJ.

Similarly, areas of high bone turnover observed in the alveolar bone following a

traumatic extraction would be expected to present with higher concentrations of

bisphosphonates. Studies using 99m

Tc-labeled bishosphonates have confirmed the

hypothesis that there is preferential uptake of tracer at these sites[202], however the exact

concentration of the bisphosphonates is unknown. Given this potential mechanism, it is

not surprising how one may believe a scenario in which trauma to the oral mucosa can

represent an initiating event of BPONJ and release of bisphosphonates from the

underlying bone can inhibit mucosal wound healing with spread to the adjacent bone[61].

4.1-4. Infection

One of the final common theories discussed in literature as a possible initiating factor in

the pathogenesis of BPONJ is presence of an infection. This idea came about from the

consistent, if not universal histological finding of bacterial colonizationin biopsies taken

from BPONJ patients[74, 181, 203, 204].

Recently, a study looking at biopsies of four BPONJ patients using scanning electron

microscopy, made the observation that all four patients had the presence of microbial

biofilms[190]. A biofilm is a complex aggregation of microorganisms growing on a solid

substrate. Biofilms are characterized by structural heterogeneity, genetic diversity,

complex community interactions, and an extracellular matrix of polymeric

substances[205]. They have a characteristic feature of having resistance to both host

defenses (antibodies and phagocytes) and to antibacterial agents, making them difficult to

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penetrate. Physical removal of the biofilm is usually required to effect a cure. The

presence of infection may be significant in producing one of the unpredicted but constant

characteristics of this condition; increased bone resorption despite the presence of

bisphosphonate in bone[201]. Several bacteria that reside in the biofilm, such as gram

negative bacteria, have the ability to stimulate bone resorption, and some even have the

capability to inhibit bone formation. Many species of Gram-negative bacteria are

pathogenic, meaning that they can cause disease in a host organism. This pathogenic

capability is usually associated with certain components of Gram-negative cell walls, in

particular the lipopolysaccharide (also known as LPS or endotoxin) layer. In humans, the

LPS mediates osteolysis through stimulation of local cytokine production and immune

system activation[206]. However, there are several other factors produced by bacteria

that have similar negative effects on the host that act through different mechanisms. For

example, studies have shown that several proteins from Porphyromonas gingivalis can

directly regulate the production of RANKL and osteoprotegerin in human periodontal

ligament cells and gingival fibroblasts, increasing the stimulation of

osteoclastogenesis[207].

The theory that infection may play a role in the pathogenesis of BPONJ may explain the

exclusive predisposition of BPONJ to the oral cavity. The oral cavity, unlike other parts

of the body, represents an open environment where bone has the potential to be easily

colonized by an abundant flora of bacteria. Some authors have even suggested that

BPONJ can be subclinical, where no mucosal breakdown and bone exposure occurs in

the oral cavity. In cases such as these, it not unreasonable to suggest that an infection can

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ensue from bacterial colonization through odontogenic or periodontal infection extending

to the bone through fistulas in the absence of mucosal breakdown. The jaws are typically

resistant to microbial colonization, in part, by the contant influx of neutrophils which

migrate into the mouth from the periodontal tissues that surround and support the teeth

[192, 208]. However in a situation where the immune system in comprimised, the

presence of oral infection is not uncommon[209, 210].

4.2 Purpose of Thesis

The goal of this thesis tested the novel hypothesis that bisphosphonates dampen

neutrophil functions and differentiation resulting in poor oral innate immunity. The

compromised oral immunity increases the risk of infection following surgery or trauma

which can subsequently develop into BPONJ.

This theory is based on the fact that there have been reports that some bisphosphonates

can cause neutropenia[7], inhibit neutrophil enzymes that impact on wound healing such

as MMP8 [8] and decreased generation of reactive oxygen species formation [9, 10] .

This is not surprising in view of the mechanism of action of bisphosphonates which target

small RhoGTPases that are signaling proteins integral to neutrophil differentiation and

function. Despite this fact, the idea that BPs may negatively affect the innate immune

system has not received much focus in the literature.

4.3 Plausible Mechanism through which ZOL Affects the Innate Immune System

The plausible mechanism for this hypothesis is based on the biology of bisphosphonates

and small GTPases where 1) it is known that BP target the Rho family of small GTPases

which are signaling proteins [211] not only in osteoclasts but also in neutrophils and 2)

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neutrophils with defects in small GTPases display perturbed differentiation and defective

antibacterial functions [170, 212].

The mechanism of action of the nitrogenous bisphosphonates involves the perturbation of

several metabolic reactions, most notably the mevalonate biosynthetic pathway. This

affects cell activity and cell survival by interfering with protein prenylation and therefore,

the signaling function of key regulatory proteins. The mevalonate pathway is a

biosynthetic route responsible for the synthesis of cholesterol, other sterols, and

isoprenoid lipids such as isopentyl diphosphate, farnesyl diphosphate (FPP) and

geranylgeranyl diphosphate (GGPP)[213, 214]. FPP and GGPP are involved in post-

translational modification (prenylation) of small GTPases such as Ras, Rab, Rho, and

Rac[215]. Prenylation is necessary for the correct function of these proteins because the

lipid prenyl group serves as an anchor for the proteins in the cell membranes[23]. The

small GTPases are important signaling proteins that regulate many aspects of intracellular

actin dynamics, and are found in all eukaryotic organisms including yeasts and some

plants. Three members of the family have been studied a great deal: Cdc42, Rac1, and

RhoA. Rho proteins have been described as "molecular switches" and play a role in cell

proliferation, apoptosis, gene expression, and multiple other common cellular

functions[216]. In osteoclasts, the small RhoGTPases are essential for cell morphology,

cytoskeletal arrangement, membrane ruffling, trafficking of vesicles, and apoptosis[40].

Neutrophil function is also dependent on the rhoGTPases, where they control among

other things, filodopida and lamellopodia formation and neutrophil chemotaxis[216].

While many of the theories regarding the pathogenesis of BPONJ have focused on how

bisphosphonates negatively affect osteoclast function, very little has been written on the

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effect that the bisphosphonates may impart on other cell types in the myeloid lineage

such as the neutrophil.

4.4 Oral Innate Immunity

The mouth contains a constant supply of bacteria in the form of surface coating biofilms on

teeth, tongue and other shedding surfaces [217]. This bacterial presence is kept under

control, in part, by the constant influx of neutrophils which migrate into the mouth from the

periodontal tissues that surround and support the teeth. In order to maintain a state of oral

health, an individual‟s immune system must be kept in tight control. A shift to either side

of this equilibrium may result in a state of immune under-activity, observed in cases of

AIDS, where a reduced number of neutrophils in the oral cavity can result in an

overgrowth of unwanted fungi termed “thrush or candidiasis” or lead to a rapid

destruction of the soft and hard tissue of the periodontium known as „necrotizing

ulcerative periodontitis‟ (NUP) [218]. Interestingly, Marx has shown that approximately

85% of affected patients have had periodontitis during the diagnosis of BPONJ [176].

Conversely, excessive neutrophil levels or cell hyperactivity may result in a state of

immune over-activity and can lead to diseases of the periodontium known as „refractory

periodontitis‟[219, 220].

The observation that a majority of cases of BPONJ, present with an active infection lead

us to suspect that the immune system may be perturbed in these individuals.

4.5 The Effect of Zoledronate on Neutrophil Function and Survival

A state of immune under-activity can result from either (1) a decrease in the functional

capability of the immune cells, or (2) a decrease in the number of immune cells that are

present to fight off the infection, or a combination of the two.

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We chose to test this hypothesis by first performing functional test on neutrophils

following both in vitro and in vivo zoledronate exposure.

4.5-1. Zoledronate negatively affects Neutrophil Function

Our results show that both in vitro and in vivo zoledronate exposure leads to diminished

neutrophil chemotaxis in vitro, diminished neutrophil recruitment to the peritoneum in

vivo, as well as diminished NAPDH oxidase activity in vitro.

Although both in vivo and in vitro models confirm that zoledronate exposure leads to

diminished neutrophil chemotaxis, only the in vitro model resulted in a dose dependent

response; where incremental increases in concentration of zoledronate, resulted in near

proportional decreases in neutrophil speed. The differences in response with increasing

BP dose observed between the in vitro and in vivo models may be the fact that the level

of exposure in vivo may have been different to what the neutrophils were exposed to in

vitro where the in vivo dose may have already been maxed out. For the zoledronate pre-

treated mice, we chose to use a dose of 2ug/mouse. This dose has been previously

calculated for mice to correspond to the dose that is typical for a human patient (detail

explanation found in „Materials and Methods‟).

Since there are no studies that have determined the concentration of zoledronate in the

bone marrow, we chose to use data from a previous study in rats to determine the

appropriate concentration of zoledronate to use for our in vitro mouse model. Using

radiolabled zoledronate in rats, Green et al. [221] quantifed the concentration of

zoledronate in bone, soft tissue and blood from 1 to 280 days after a single 2ug infusion.

Since the bone marrow is apposed to the bone, we estimated that the concentration of

ZOL in the bone marrow is somewhere in between the bone value and the soft tissue

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value. Taking this into account, we used values from 20-100 uM in vitro to try and

reproduce the 2ug dose in vivo. The differences in dose response between the in vitro and

in vivo models, is possibly due to the fact that although we attempted to expose the

neutrophils to similar ZOL concentrations in both models, we were unable to do so

precisely. It is possible that a 2ug dose of zoledronate elicits the maximum effect on

neutrophils that can be achieved, where any further increase in dose does not have any

further negative effect. Whereas in vitro, the dose from 20uM-100uM may be still low

enough that incremental increases lead to further decreases in cell speed.

All of our initial experiments were performed after 30 days post-zoledronate injection to

recapitulate the dosing cycle in humans. Typically human patients are given a regime of

4mg/30days of a bisphosphonate (usually zoledroante) for a variable number of months

depending on the severity of their condition. Interestingly the results that were obtained

following 30 days post-zoledronate infusion were the same as those obtained after only

14 days of exposure. The lack of difference between 14 and 30 days post injection is

consistent with previous work in a rat model, where the levels of zoledronate in bone and

soft tissue remained relatively constant from the day of infusion to approximately 60 days

post-infusion. These long term effects observed with ZOL can be attributed to the idea

that there is continual recycling of BP off and on back onto the bone mineral surface [28,

29]. This notion is supported by the observation the BPs can be found in plasma and

urine many months after dosing [54] . The observation that neutrophil function is also

perturbed at 14 days post-ZOL exposure implies that; because of the intrinsically short

life of the neutrophils, one will see the deficits in the neutrophils within a few days and

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this will continue until the levels of circulating BP drop below some critical

concentration, possibly months or years after the last injection.

4.5-2. Zoledronate Affects Neutrophil Function through the small RhoGTPase RhoA

Neutrophil chemotaxis and NADPH oxidase activity is dependent upon the appropriate

localization and activation of the small RhoGTPases; Rac, Rho and Cdc42, within the

neutrophil. Unlike Cdc42 and Rac which localize to and are responsible for the

formation and protrusion of the leading edge of the neutrophil, RhoA localizes to and is

responsible for regulating the myosin II-based contraction and retraction of the trailing

uropod during neutrophil chemotaxis[26, 133, 136, 222-224]. Our results confirm that

zoledronate perturbs the activation of RhoA but does not appear to disrupt the activation

of either Cdc42 or Rac1 following fMLP stimulation. The diminished RhoA activation

may explain the reduced migratory ability of the zoledronate-exposed neutrophils

compared with controls, where these neutrophils may have an inhibility to fully retracting

their tails during migration. These results are in accordance with several other groups

who have also observed neutrophil migration defects when RhoA activation is impaired

[225, 226].

To address the second possible scenario that a decrease in the number of immune cells

leads to diminished immune function, we quantified the number of circulating neutrophils

in zoledronate-treated mice at 14 and 30 days following a 2ug dose of ZOL. We

demonstrate that both time points result in a similar significant reduction in circulating

neutrophil counts, leading us to propose that ZOL may decrease either mature neutrophil

survival and/or neutrophil differentiation in the bone marrow.

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4.5-3. Zoledronate Decreases Mature Neutrophil Survival

Neutrophil progenitors isolated from control mice and differentiated in the presence of

ZOL in vitro demonstrated an increase in apoptosis in a concentration dependent manner

(Figure 5A). Since the total number of mature neutrophils derived from the progenitors

(live + dead) were unaffected by ZOL treatment we conclude that local zoledronate

exposure does not affect the process of neutrophil differentiation, but instead increases

mature neutrophil apoptosis. While our results show that; (i) ZOL elicits its effect

during neutrophil differentiation (Figure 5A), and (ii) the effects that ZOL imparts on

neutrophils are long lasting, where mature neutrophils from ZOL pre-treated mice exhibit

increased apoptosis even when in a ZOL-free environment (Figure 5E); we are still

unable to determine at what phase of neutrophil differentitaiton that ZOL is eliciting its

affects on neutrophils.

4.5-4. Zoledronate and G-CSF

Interestingly, when we attempted to recapitulate the above findings by subjecting mature

neutrophils isolated from ZOL-treated mice to a 20 hour spontaneous apoptosis assay, no

increase in mature neutrophil apoptosis was observed (Figure 5D). In an attempt to

understand why ZOL exposure affects the survival of mature neutropils when

differentiated in vitro (Figure 5A), while no difference in survival was observed when the

neutrophils were directly isolated from ZOL treated mice (Figure 5D), we considered that

the major difference between these two experiments was the presence of a growth factor

G-CSF. Granulocyte colony stimulating factor (G-CSF) is produced by a number of

different tissues to stimulate the bone marrow to produce granulocytes and stem cells and

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to promote survival, proliferation, differentiation, and function of neutrophil precursors

and mature neutrophils[227]. These complex functions necessitate G-CSF‟s presence

during in vivo and in vitro neutrophil differentiation from precursor cells. For this reason,

G-CSF was only added to the initial experiment (Figure 5A) to encourage neutrophil

differentiation from the progenitors and not to the later assay (Figure 5D) in which only

mature neutrophils were tested. To adjust for this, G-CSF was added to the media

containing mature neutrophils and apoptosis was re-analyzed. Figure 5E shows that the

addition of G-CSF leads to a similar increase in mature neutrophil apoptosis, as was

observed in Figure 5A. G-CSF is known to dramatically prolong the half-life of mature

neutrophils, having a so-called „anti-apoptotic effect‟, which supports the observation that

even control cells show lower levels of apoptosis when in the presence of G-CSF (Figure

5D and E). The observation that G-CSF must be present for zoledronate to have a

negative effect on neutrophil survival suggests that zoledronate inhibits the anti-apoptotic

effects of G-CSF. Previous groups have shown that G-CSF signals via the G-CSF

receptor requiring various GTPases, specifically Ras and Rap1[228, 229]. Our results

suggest that ZOL may alter G-CSF receptor signaling, impeding the anti-apoptotic effect

of G-CSF on neutrophils and ultimately resulting in higher levels of neutrophil apoptosis.

Our theory that zoledronate negatively effects the function and lifespan of

neutrophils is consistent with previous work by Coxon et al. who has shown that

bisphosphonates have the potential to leave the bone surface in the presence of

osteoclasts and concentrate in solution to disrupt the function of several other cell types

[200].

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4.6 Neutrophil Function in BPONJ patients

We present convincing evidence that suggests that neutrophil function and differentiation

in the presence of bisphosphonates are severely impaired. However some may argue that

the effects that are observed in mice may not be recapitulated in human BPONJ patients.

To address this issue, a study was set up to observe neutrophil function in diagnosed

BPONJ patients. As expected, the preliminary data from these trials suggest that

neutrophil chemotaxis is also perturbed in BPONJ patients, where neutrophils isolated

from the blood of BPONJ patients did not migrate as well as control blood neutrophils

(Figure 6A). As a positive control, we selected three patients that had been diagnosed

with osteoradionecrosis (ORN), a condition which has a similar clinical presentation to

BPONJ, however the pathogenesis is known to be the result from radiation therapy that

negatively affects the vasculature of jaws. The use of these patients as a control is

beneficial since we may observe what true neutrophil recruitment to a site with increased

inflammation is in the absence of bisphosphonate therapy. No difference in chemotaxis

was observed between control and ORN patients, however BPONJ patients had poorer

chemotaxis in comparison to ORN neutrophils (p<0.05), confirming that the

bisphosphonates do in fact perturb the migration of neutrophils, which may result in an

overall reduced immune response. Although we intially expected to see a decrease in oral

neutrophil recruitment in BPONJ patients, this was not the case. Both ORN and BPONJ

patients exhibited a trend toward an increase in oral neutrophil delivery (p>0.05) however

both did not reach statistical significance. The trend toward an increase in neutrophil

delivery in this patient population is not surprising since an open area with active

inflammation is present in the oral cavity in both cases. It may have been more

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informative to test the specific bacterial killing and NADPH oxidase activity of

neutrophils in the BPONJ group and compare it to the neutrophils present in the ORN

group to identify if the in vitro neutrophil defects can be recapitulated in the human oral

cavity, which may contribute to the ongoing infection in BPONJ patients.

4.7 Questions Arising from our Study

The results presented in this thesis may lead one to then ask the question, if

zoledronate does cause affects on neutrophils, then why are there limited reports of

increased susceptibility to infection in BP treated patients? As well, if bisphosphonates

do lead to neutrophil defects, then why is this condition only observed in 1-10% of BP-

treated patients?

These questions can be addressed by the idea that not all patients with neutropenia for

example, display equal susceptibility to infection, ie. While the BP may be imparting a

defect in neutrophils, possibly only a subset of these patients (1-10%) actually show a

phenotype for increased infection susceptibility.

We believe that the neutrophil defect observed in the 1-10% of BP users is quite mild and

in normal circumstances is mild enough that it does not predispose the patient to

increased risk of systemic infections.

However, in a case where the jaw of a BP-treated patient is now subjected to trauma, the

immune cells which are typically recruited are now being brought to a site with impaired

vascularity and accordingly, a reduced number of these cells are able to penetrate the site.

Consequently, the neutrophils that are able to penetrate the wound are not functioning to

100% capacity, and their ability to combat the abundant oral bacteria which normally

resides in the mouth is impaired and an infection ensues. It is also worth mentioning that

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along with ZOL imparting mild defects in neutrophils, a majority of patients who develop

BPONJ are cancer patients that are also treated concurrently with corticosteroids.

Corticosteroids act on the immune system by blocking the production of substances that

trigger allergic and inflammatory actions, such as prostaglandins. As well, they also

impede the function of white blood cells impeding the immune system from functioning

properly. Hence it may be combination of both medications (ZOL and corticosteroids)

that is imparting a deleterious effect on the innate immune response which predisposes

certain individuals to BPONJ more than others.

Furthermore, it is likely that the individual defects that have been noted in BP-treated

patients such as, impaired bone and soft tissue remodeling, impaired angiogenesis, and

the impaired immune response, are mild enough that on their own do not cause BPONJ,

but when all of these mild defects are coupled together, a vicious cycle is established

where the bone and soft tissue lesion caused by a tooth extraction or even as small as oral

ulceration is unable to heal because of persisting infection, resulting in sustained bone

resorption and the release of cytotoxic bisphosphonates. The proposed multifactorial

etiology of BPONJ may explain the rarity of this condition in BP- treated patients.

Despite infection being present in most BPONJ patients, difficulty arises when trying to

determine if infection is a primary or secondary event in the pathophysiology of this

condition. Although our data does not difinitively confirm causality, we believe that

infection is a primary etiology to BPONJ for two reasons. Firstly, our data clearly

demonstrates that ZOL disrupts neutrophil functions as well as limiting neutrophil

surivial. Extrapolating these results suggest that if a BP- treated pt is now subjected to

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74

trauma to the oral cavity, such as a tooth extraction, then the neutrophils which are not

functioning or surviving to full capacity, will have difficulty initiating the wound healing

response which potentiates the development of a non-healing wound. Secondly, it is also

important to compare and contrast features of BPONJ with ORN. The pathogenesis of

ORN is defined by a sequence of radiation, hypovascular-hypocellular-hypoxic tissue

formation and trauma induced or spontaneous mucosa breakdown leading to a non-

healing wound [230]. While both BPONJ and ORN show rather identical clinical

presentations, one of the major differences histologically is the incidence of infection and

bacterial colonization in biopsies taken from BPONJ patients. While BPONJ patients

almost exclusively present with an active infection of the nectrotic bone, ORN does not

necessarily present in such a way. This is not to say that infection in ORN patients does

not occur, however most recent studies show that the incidence of Actinomyces bacteria

for example, is almost double in BPONJ patients than in ORN patients[181]. A second

group showed in a 5- year retrospective study of 50 cases of ORN of the jaw, that only

six cases (12%) of Actinomyces infection were found[231]. This is in contrast to several

studies which have shown that almost 100% of the BPONJ specimens are colonized with

multispecies microbial biofilms [190, 232]

This suggests that an additional mechanism, such as an alteration in the immune

response, may be predisposing certain patients to infection which may subsequently

develop into BPONJ.

4.8 Study Limitations

It is important to recognize that a specific limitation of this and many studies looking into

the pathogenesis of BPONJ is the fact that a majority of patients diagnosed with BPONJ

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75

are concurrently being treated for malignancy. Thus it may be the fact that not only is this

patient population subjected to BPs with a higher dose and potency, but cancer therapy

usually necessitates the use of several other medications, such as corticosteroids and

cytotoxic drugs, that may either exacerbate the effects of the bisphosphonates or they

themselves may be contributing to the pathogenesis of BPONJ.

A cancer treatment that may also affect this condition is the use of G-CSF. G-CSF is the

new standard of care in certain cancer patients being treated with chemotherapy drugs. In

oncology and hematology, a recombinant form of G-CSF is used to accelerate recovery

from neutropenia and prevent infection following chemotherapy[233, 234]. Although we

are unable to come to any firm conclusion about this, it is still worthwhile pointing out

that it is quite possible that a majority of the patients that have developed BPONJ are also

treated with G-CSF . The results of our study suggest that the assumed benefits from the

exogenous G-CSF treatments in these patients may be diminished in those concurrently

treated with zoledronate.

4.9 Future Work

It would be beneficial in the future to analyze neutrophil delivery to and function in the

oral cavity of patients being treated with bisphosphonates. Oral neutrophil levels and oral

neutrophil functions will be monitored prospectively in these patients where oral rinse

samples will be collected from patients prior to initiation, and during high dose BP

therapy to determine if BPs affect neutrophil oral delivery and function. As well, we

suspect that the bisphosphonates may be disrupting the function of various other proteins

involved in cellular activity apart from RhoA that was identified in this study. We hope

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76

the use of Isotope-Coded Affinity Tags (ICAT) technology may provide additional

information on possible protein targets of bisphosphonates by using quantitative

comparison of the two proteomes.

Our study is the first to present clear evidence that the bisphosphonates negatively affect

neutrophil function and survival, possibly compromising immune function.

Several rational theories have been proposed in the literature and it likely that this

condition is multifactorial in origin where bisphosphonates are released at high

concentrations into the immediate environment, and are taken up by various cells types

including epithelial cells, vascular, mesenchymal and immune cells which lead to a state

of impaired wound healing.

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77

Thesis Summary

Bisphosphonates are anti-bone resorptive drugs that are primarily used for the prevention of

osteoporosis and more recently as the standard of care to prevent skeletal-related symptoms

and events in patients with multiple myeloma and metastatic bone lesions of solid tumor

cancers such as breast, prostate and lung cancer [1] [2]. A small subset of patients (1-10%)

treated with intravenous bisphosphonates are at an increased risk of developing a severe

bone disease that affects the jaws, known as bisphosphonate-induced osteonecrosis of the

jaw (BPONJ) [4, 5].

In recent years, an increased incidence of BPONJ has been associated with the use of high

intravenous dosages of bisphosphonates, required by some cancer treatment regimens,

especially when the patient undergoes subsequent dental procedures.

The publicity surrounding this complication and the lack of information about its

underlying pathogenesis has led to apprehension amongst patients and dental clinicians

when treating patients with a history of bisphosphonate therapy [6]. Critical information

that will help alleviate these concerns and improve oral treatment approaches in this patient

population is required. Being able to identify and understand the possible mechanisms

through which bisphosphonates affect normal bone and soft tissue wound healing in the

jaw will help identify patients at risk of developing BPONJ and improve patient

management.

In this thesis, we show evidence that bisphosphonate therapy negatively affects the function

and survival of cells that are key players in the immune system (neutrophils), and that

patients with BPONJ, appear to have diminished neutrophil function in comparison to their

healthy counterparts. These results suggest that a once overlooked area, the immune

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78

system, may play a role as a contributing risk factor in the development of BPONJ. Future

work will concentrate on determining if worsening neutrophil levels or function

corresponds with a worsening of the disease or increased risk of the disease.

If oral neutrophil function is confirmed to be a contributing risk factor for the

development of BPONJ, we may be able to identify those patients at risk of BPONJ prior

to invasive dental treatment. This would be the first risk assessment screening tool for

this condition. Additionally, in patients on BP therapy who require oral surgery or in

those who develop BPONJ, neutrophil function assays may guide therapy in terms of

discontinuing or modifying BP therapy during the peri-operative and healing or

resolution periods.

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79

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