| Folate status and neural tube defects. | |
| | |
MedLine Citation:
|
PMID: 10609896 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
A M Molloy; J L Mills; P N Kirke; D G Weir; J M Scott |
Related Documents
:
|
9246836 - Aetiology of obesity. 19506576 - The genetic contribution to non-syndromic human obesity. 9278576 - Genetics of human obesity: recent results from linkage studies. 10363126 - Linkage disequilibrium at the cystathionine beta synthase (cbs) locus and the associati... 15770496 - Association of the hla region with multiple sclerosis as confirmed by a genome screen u... 10780666 - Mutations of the p53 gene in nasal nk/t-cell lymphoma. |
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 |
Affiliation:
|
Department of Clinical Medicine, Trinity College Dublin, Ireland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
5,10-Methylenetetrahydrofolate Reductase (FADH2) Dietary Supplements Erythrocytes / metabolism Female Folic Acid / administration & dosage, metabolism*, therapeutic use Folic Acid Deficiency / blood, genetics* Genetic Variation Genotype Humans Methylenetetrahydrofolate Reductase (NADPH2) Neural Tube Defects / genetics*, prevention & control Oxidoreductases / deficiency, genetics* Point Mutation Pregnancy Pregnancy Complications* / blood Spinal Dysraphism / genetics |
| Chemical | |
Reg. No./Substance:
|
59-30-3/Folic Acid; EC 1.-/Oxidoreductases; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2); EC 1.7.99.5/5,10-Methylenetetrahydrofolate Reductase (FADH2) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Molecular and cellular mechanisms of transepithelial iodide transport in the thyroid.
Next Document: Proposed standard for human blood vitamin B1 value using HPLC. The Committee for Vitamin Laboratory ...