spina bifida and genetics by margo whiteford
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Spina Bifida and Gene,cs
Margo Whiteford President IF
What Is A Gene?
DNA
What Is A Gene?
‘A recipe for the produc,on of proteins used in the forma,on and the func,on of the body as it goes throughout life’
Chromosomes
Gene,c Code
A
C
T
G G
Sponge Cake Ingredients 4ozs Margarine 4ozs Caster sugar 6ozs Flour 2eggs
Method Mix all the ingredients together and bake in an oven at 200C for 45 mins
Sponge Cake Ingredients 4ozs Margarine 4ozs Caster sugar 2ozs Flour 2eggs
Method Mix all the ingredients together and bake in an oven at 200C for 45 mins
Perfect Baby Ingredients ATT GCC TAC CTC GGG CTA ATC CTG AAT CGT CAT AGT CCG TAT
Method CTG AAT CAG GGT CCG CTA GAG GGC TAC TTT AGC
Perfect Baby Ingredients 1 head 1 body 2 arms 2 legs
Method Take a mother and father and mix together with a lot of love
Spelling mistake in recipe?
or something else?
Family History
Family History
Family History
Family History
Family History
Gene,c Factors
Non-‐gene,c Factors
Mul,factorial
Gene,c Factors
What Are The Gene,c Factors?
Perfect Baby Ingredients ATT GCC TAC CTC GGG CTA ATC CTG AAT CGT CAT AGT CCG TAT
Method CTG AAT CAG GGT CCG CTA GAG GGC TAC TTT AGC
Family History
Perfect Baby Ingredients ATT GCC TAC CTC GGG CTA ATC CTG AAT CGT CAT GAT CCG TAT
Method CTG AAT CAG GGT CCG CTA GAG GGC TAC TTT AGC
Gene,c Factors Mouse Models
Family Studies
Curly Tail
Non-‐gene,c Factors
Nutri,on Maternal Illness
Obesity Medica,on
The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid required for new cell forma,on
The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid required for new cell forma,on
Methylated Product
(eg methylated lipids, proteins, DNA etc)
Substrate
Methyl Transferases
S-‐Adenosylmethionine
ATP
Methionine
Tetrahydrofolate
Folic Acid
Purines
5,10 Methylene tetrahydrofolate reductase
5-‐Methyl tetrahydrofolate
Homocysteine
Hydrolase
S-‐Adenosylhomocysteine
Cystathionine Synthase (vit B6)
Cystathionine
5,10 Methylene tetrahydrofolate
Methionine Synthase (Vit B12)
The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid required for new cell forma,on • MRC Trial 1991
The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid (vitamin B9) required for new cell forma,on
• MRC Trial 1991 • Must be taken pre-‐concep,on • Now recommended for the general popula,on (0.4mg)
• 4mg if :-‐ previously affected child/pregnancy affected by spina bifida
Methylated Product
(eg methylated lipids, proteins, DNA etc)
Substrate
Methyl Transferases
S-‐Adenosylmethionine
ATP
Methionine
Tetrahydrofolate
Folic Acid
Purines
5,10 Methylene tetrahydrofolate reductase
5-‐Methyl tetrahydrofolate
Homocysteine
Hydrolase
S-‐Adenosylhomocysteine
Cystathionine Synthase (vit B6)
Cystathionine
5,10 Methylene tetrahydrofolate
Methionine Synthase (Vit B12)
Inositol
• Carbohydrate
• Required for a number of signalling and secondary messenger molecules, including gene expression
• PONTI Study
Vitamin B12
Irish and Canadian studies have shown that women with low vitamin B12 levels have a higher risk of having a child with a neural tube defect
The Future?
Exome Sequencing