Document Detail

Folate status and neural tube defects.
MedLine Citation:
PMID:  10609896     Owner:  NLM     Status:  MEDLINE    
Periconceptional folic acid supplementation prevents approximately 70% of neural tube defects (NTDs). While most women carrying affected fetuses do not have deficient blood folate levels, the risk of having an NTD affected child is inversely correlated with pregnancy red cell folate levels. Current research is focused on the discovery of genetic abnormalities in folate related enzymes which might explain the role of folate in NTD prevention. The first candidate gene to emerge was the C677T variant of 5,10-methylenetetrahydrofolate reductase. Normal subjects who are homozygous for the mutation (TT) have red cell folate status some 20% lower than expected. It is now established that the prevalence of the TT genotype is significantly higher among spina bifida cases and their parents. Nevertheless, our studies show that the variant does not account for the reduced blood folate levels in many NTD affected mothers. We conclude that low maternal folate status may in itself be the most important risk factor for NTDs and that food fortification may be the only population strategy of benefit in the effort to eliminate NTDs.
A M Molloy; J L Mills; P N Kirke; D G Weir; J M Scott
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  BioFactors (Oxford, England)     Volume:  10     ISSN:  0951-6433     ISO Abbreviation:  Biofactors     Publication Date:  1999  
Date Detail:
Created Date:  2000-02-01     Completed Date:  2000-02-01     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8807441     Medline TA:  Biofactors     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  291-4     Citation Subset:  IM    
Department of Clinical Medicine, Trinity College Dublin, Ireland.
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MeSH Terms
5,10-Methylenetetrahydrofolate Reductase (FADH2)
Dietary Supplements
Erythrocytes / metabolism
Folic Acid / administration & dosage,  metabolism*,  therapeutic use
Folic Acid Deficiency / blood,  genetics*
Genetic Variation
Methylenetetrahydrofolate Reductase (NADPH2)
Neural Tube Defects / genetics*,  prevention & control
Oxidoreductases / deficiency,  genetics*
Point Mutation
Pregnancy Complications* / blood
Spinal Dysraphism / genetics
Reg. No./Substance:
59-30-3/Folic Acid; EC 1.-/Oxidoreductases; EC Reductase (NADPH2); EC,10-Methylenetetrahydrofolate Reductase (FADH2)

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