## Abstract Different lines of evidence indicate that methylenetetrahydrofolate reductase (__MTHFR__) functional gene polymorphisms, causative in aberrant folate–homocysteine metabolism, are associated with increased vulnerability to several heritable developmental disorders. Opposing views are exp
Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma
✍ Scribed by Carmen S. P. Lima; Helvia Nascimento; Luciana C. Bonadia; Maria T. Teori; Claudio S. R. Coy; Juvenal R. N. Góes; Fernando F. Costa; Carmen S. Bertuzzo
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 171 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0179-1958
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Methylenetetrahydrofolate reductase (MTHFR) is involved in the one-carbon cycle, which is of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids. The MTHFR gene includes two common polymorphisms (rs1801133 or C677T; rs1801131 or A1298C) which both alter enzyme
Spina bifida cystica (SB) is one of the most common and disabling of birth defects. Folic acid supplementation in mothers during the periconceptional period has been shown to prevent more than 70% of neural tube defects (NTD) including SB. However, the mechanism is unknown. We tested a series of mul
## Communicated by Mark Paalman Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe hyperhomocysteinemia, homocystinuria and a variety of neurological and vascular problems. Eighteen rare mutatio