Spina Bifida and Genetics by Margo Whiteford

Page 1

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 Â





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


Mul,factorial

Gene,c Factors

Non-­‐ gene,c Factors


What Are The Gene,c Factors?

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




Family Studies

Gene,c Factors

Mouse Models


Curly Tail


Nutri,on

Obesity

Non-­‐ gene,c Factors

Maternal Illness

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


Methyl Transferases Substrate

Methylated Product (eg methylated lipids, proteins, DNA etc)

S-­‐Adenosylmethionine

S-­‐Adenosylhomocysteine Cystathionine

Hydrolase ATP

Cystathionine Synthase (vit B6)

Homocysteine Methionine Synthase (Vit B12)

5-­‐Methyl tetrahydrofolate

5,10 Methylene tetrahydrofolate reductase

Methionine

Purines

Tetrahydrofolate

5,10 Methylene tetrahydrofolate Folic Acid


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


Methyl Transferases Substrate

Methylated Product (eg methylated lipids, proteins, DNA etc)

S-­‐Adenosylmethionine

S-­‐Adenosylhomocysteine Cystathionine

Hydrolase ATP

Cystathionine Synthase (vit B6)

Homocysteine Methionine Synthase (Vit B12)

5-­‐Methyl tetrahydrofolate

5,10 Methylene tetrahydrofolate reductase

Methionine

Purines

Tetrahydrofolate

5,10 Methylene tetrahydrofolate Folic Acid


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



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