last flight from jfk. higher glycogen level in perk ko neonates
Post on 20-Jan-2016
217 Views
Preview:
TRANSCRIPT
Last flight from JFK
Higher glycogen level in PERK KO neonates
Hepatic microsomal glucose-6-phosphatase system and SIDS
Microassay techniques and monospecific antibodies were used to study the hepatic glucose-6-phosphatase system in liver samples from 55 infants who had died suddenly and unexpectedly, including 38/55 victims of sudden infant death syndrome (SIDS). Raised hepatic glycogen was found in 10/38, all of whom had a diagnosis of SIDS,
Of the 10 infants with raised hepatic glycogen who had a diagnosis of SIDS, 8/10 had glucose-6-phosphatase deficiency (type 1a glycogen storage disease), and 2/10 had transport protein T2 deficiency (type 1c glycogen storage disease).
Burchell A, et al, Lancet. 1989;2:291-4.
Phenotype of GSD-1a mice
severe hypoglycemia,
growth retardation,
perinatal lethality,
deformity of joints,
hepatomegaly,
kidney enlargement,
hyperlipidemia.Lei KJ et al,Nat Genet. 1996;13:203-9.
G6-Pase systems
Catalytic subunit inside ER
Transporter subunits transport G6-P into ER
First test (Add Triton X100)
Glucose-6-phosphatase activity
0
1
2
3
4
5
6
0 2 4 6 8 10 12
G6P concentration(mM)
V (
pro
du
ctio
n o
f p
)
A B
C D
KO1
KO2
WT2
WT1
Second Test(Without Triton X100)
G6-Pase w ithout TritonX100
0
0.5
1
1.5
2
2.5
3
3.5
4
4.5
5
0 2 4 6 8 10 12
Substrate concentration
V (
P p
rod
uct
ion
)
A
B
C
D
WT1
WT2
KO1
KO2
Second test-With TritonX100
G6-Pase w ith tritonX100
0
0.5
1
1.5
2
2.5
3
3.5
0 2 4 6 8 10 12
Substrate concentration
V (
P p
rod
uct
ion
)
A
B
C
D
WT1
WT2&KO2
KO1
Not reliable ?
Increased insulin sensitivity
top related