MTHFR C677T gene mutation as a risk factor for arterial stroke: A hospital based study. Eur J Neurol 2005;12:40-4.R.V. Alluri, V. Mohan, S. Komandur, K. Chawda, J.R. Chaudhuri, Q. Hasan, MTHFR C677T gene mutation as a risk factor for arterial stroke: a hospital based study...
A common mutation (C677T), which results in high homocysteine and low plasma folate levels, has been associated with a thermolabile form of the MTHFR enzyme, therefore being a risk factor for cardiovascular diseases and neural tube defects (NTD) in the homozygous form (Frosst, 1995). Another...
Acronyms A gene on chromosome 1p36.3 that encodes an enzyme which converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Molecular pathology Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency and increase sucepti...
Because of MTHFR's involvement with folate metabolism and evidence that maternal use of a multivitamin with folic acid in early pregnancy reduces risk for cleft lip with or without cleft palate (CLP), we hypothesized that infants homozygous for the C677T genotype would be at increased risk for...
An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia...
[ ꎻ]ꎻ结论: 兆偏头痛无明确相关ꎻ基因型能增加先兆型偏头痛发病风险ꎻ 关键词亚甲基四氢叶酸还原酶ꎻꎻ偏头痛ꎻ分析 文章编号:中图分类号:文献标识码: AssociationbetweenhomozygousC677TmutationinMTHFRgeneand migraineameta~analysis ZuoYanfangLiMingGuoYiGaoZhan DepartmentofNeurologyLonggangDistrictCentr...
原发性高血压患者MTHFR基因C677T 多态性及血浆Hcy水平的变化 王林郭宏李玉明 579 论着 摘要目的:研究N5,N10一亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性及 血浆同型半胱氨酸 (Hcv)水平的改变与原发性高血压的关系.方法:对55例单纯收缩期高血压(ISH)和 50例非单纯收缩期高血压 (NISH)两组及46例健康对照...
The MTHFR C677T (rs1801133) polymorphism is a missense mutation that causes the substitution of alanine to valine in 222th and 263th positions of the amino acid sequence of methylenetetrahydrofolate reductase (NADPH) which results in functional loss [1]. Homozygous TT genotype carriers for the ...
Patients with the MTHFR C677T homozygous polymorphism had 1.889 times higher odds of having endometriosis diagnosis than patients without the MTHFR C677T homozygous polymorphism. 3. Discussion This study showed that, after controlling for confounders, an MTHFR C677T homozygous polymorphism might be con...
Homozygous for C677T have an estimated 70% loss of function Heterozygous for C677T have an estimated 40% loss of function There is a lot of debate about whether those with the A1298C mutation experience diminished function. Some say no, but based on what I’ve read of Dr. Lynch’s wo...