亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)在叶酸和同型半胱氨酸代谢、DNA甲基化和DNA合成等方面起重要作用。MTHFR基因突变造成酶活性和耐热性降低,导致高半胱氨酸血症和DNA结构异常,从而影响多种疾病的发生。现已发现MTHFR基因多态性与心脑血管疾病、出生缺陷和一些肿瘤等多种疾病存在相关性。
Methylenetetrahydrofolate reductase (MTHFR), a pivotal enzyme in folate and homocysteine metabolism, regulates the proportional distribution of one-carbon moieties between cellular methylation reaction and nucleic acid synthesis. Different MTHFR mutations lead to moderate hyperhomocysteinaemia and DNA damage, which is a common risk factor for many diseases. It has been reported that two common MTHFR polymorphisms, C677T and A1298C, may be associated with cardiovascular disease, cerebrovascular disease , birth defect, cancer and other diseses.