Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects
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منابع مشابه
Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects.
Periconceptional folic acid (pteroylglutamic acid) supplementation or the fortification of staple foods with folic acid have been shown to reduce the risk for pregnancies with neural tube defects (NTDs). However, mechanistic link(s) between this increased intake of folic acid and NTD prevention remains unclear. Homozygous or heterozygous variants of the thermolabile 5,10-methylenetetrahydrofola...
متن کاملLETTER TO JMG Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects
Periconceptional folic acid (pteroylglutamic acid) supplementation or the fortification of staple foods with folic acid have been shown to reduce the risk for pregnancies with neural tube defects (NTDs). However, mechanistic link(s) between this increased intake of folic acid and NTD prevention remains unclear. Homozygous or heterozygous variants of the thermolabile 5,10-methylenetetrahydrofola...
متن کاملThermolabile methylenetetrahydrofolate reductase in coronary artery disease.
BACKGROUND Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors. Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of methylenetetrahydrofolate to methyltetrahydrofolate, the methyl donor in the remethylation of homocysteine to methionine. A 677C-->T mutation in the MTHFR gene ...
متن کاملA genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects.
It is now well-established that folic acid, taken peri-conceptionally, can reduce the risk of neural tube defects (NTDs). Recent work has demonstrated that an abnormality of homocysteine metabolism is a critical factor. The gene for 5,10 methylenetetrahydrofolate reductase, an enzyme important in homocysteine metabolism, was studied in relation to NTDs. To determine the frequency of the allele ...
متن کاملThermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature vascular disease. Control subjects and vascular patients with mild hyperhomocysteinemia and with normohomocysteinemia were studied. The mean (+/- SD) specific MTHFR activity in lymphocytes of 22 control subjects was 15.6 (+/- 4.7) nmol CH2O/...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.5.366