Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.
نویسندگان
چکیده
Periconceptional folate supplementation reduces the risk of neural-tube defects. We studied the frequency of the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers). 5% of 207 controls were homozygous for the 677C-->T mutation compared with 16% of mothers, 10% of fathers, and 13% of patients. The mutation was associated with decreased MTHFR activity, low plasma folate, and high plasma homocysteine and red-cell folate concentrations. The 677C-->T mutation should be regarded as a genetic risk factor for spina bifida.
منابع مشابه
Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida.
We analyzed the role of the C677T polymorphism of the 5,10-methylenetetrahydrofolate and the A66G polymorphism of the methionine synthase reductase genes as risk factors for occurrence of spina bifida. The studied population included 106 mothers and 104 children from affected families, and a control group of 100 adults. We found statistically significant differences between the occurrence of th...
متن کامل5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36.3), and two common alleles, the C677T (thermolabile) allele and the A1298C allele, have been described. The population frequency of C677T homozygosity ranges from 1% or less among Blacks from Africa and the United States to 20% or more among Italians and ...
متن کاملIs the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis.
The common 677C-->T mutation (+) in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme, has been associated with spina bifida neural tube defects (NTD). We combined all known Dutch control groups, a total of 1273 individuals, and found a prevalence of the 677C-->T mutation of 8.4%. When compared with the frequencies in 55 SB patients and to mothers ...
متن کاملAcquired and inherited disorders of cobalamin and folate in children.
Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present, accompanied by neurological deficits if the diagnosis is delayed. Most cases of spina bifida and other neural tube defects result from maternal folate and/or cobalamin insufficiency in the periconceptual period. Polymorphisms in a...
متن کاملAge dependence of the influence of methylenetetrahydrofolate reductase genotype on plasma homocysteine level.
An elevated plasma homocysteine level is a risk factor for cardiovascular disease and is often observed in other common disorders, including neural tube defects, pregnancy complications, and Alzheimer's disease. Plasma homocysteine level is affected by vitamin intake and by sequence variation in enzymes of homocysteine metabolism. One such enzyme, methylenetetrahydrofolate reductase (MTHFR), sy...
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ورودعنوان ژورنال:
- Lancet
دوره 346 8982 شماره
صفحات -
تاریخ انتشار 1995