spina bifida and genetics by margo whiteford
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Spina Bifida and Gene,cs
Margo Whiteford President IF
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What Is A Gene?
DNA
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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’
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Chromosomes
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Gene,c Code
A
C
T
G G
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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
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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
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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
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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
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Spelling mistake in recipe?
or something else?
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Family History
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Family History
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Family History
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Family History
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Family History
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Gene,c Factors
Non-‐gene,c Factors
Mul,factorial
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Gene,c Factors
What Are The Gene,c Factors?
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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
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Family History
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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
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Gene,c Factors Mouse Models
Family Studies
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Curly Tail
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Non-‐gene,c Factors
Nutri,on Maternal Illness
Obesity Medica,on
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The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid required for new cell forma,on
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The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid required for new cell forma,on
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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)
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The Folic Acid Story
• Dietary factors recognised 1970’s • Folic Acid required for new cell forma,on • MRC Trial 1991
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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
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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)
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Inositol
• Carbohydrate
• Required for a number of signalling and secondary messenger molecules, including gene expression
• PONTI Study
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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
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The Future?
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Exome Sequencing
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