Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association
✍ Scribed by Valerie B. O’Leary; James L. Mills; Faith Pangilinan; Peadar N. Kirke; Christopher Cox; Mary Conley; Andrea Weiler; Kun Peng; Barry Shane; John M. Scott; Anne Parle-McDermott; Anne M. Molloy; Lawrence C. Brody
- Book ID
- 116987620
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 252 KB
- Volume
- 85
- Category
- Article
- ISSN
- 1096-7192
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Folic acid administration to women in the periconceptional period reduces the occurrence of neural tube defects (NTDs) in their offspring. A polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR), 677C¨T, is the first genetic risk factor for NTDs in man identified at the molec
Persons with a thermolabile form of the enzyme 5,lO methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C
Results from experimental animals and other laboratory data have suggested a role for methionine, an essential amino acid, in normal closure of the neural tube. We hypothesized that women who had higher dietary intakes of methionine would be at lower risk for neural tube defect (NTD)-affected pregna
## Abstract ## BACKGROUND A 28‐bp repeat polymorphism in the 5′UTR of the thymidylate synthase (__TYMS__) gene represents a candidate risk factor for neural tube defects (NTDs) due to involvement in folate‐dependent homocysteine metabolism. Non‐Hispanic, white, U.S. citizens carrying at least one