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亚甲基四氢叶酸还原酶（ＭＴＨＦＲ）在叶酸和高半胱氨酸的代谢中起关键的作用。据报道常见的ＭＴＨＦＲＣ６７７Ｔ突变会导致该酶的活性降低并伴有酶的耐热性变化，因而推测其可能提高心血管疾病和神经管缺陷的发病风险。尽管在世界范围内ＭＴＨＦＲＣ６７７Ｔ突变的等位基因
Methylenetetrahydrofolate reductase (MTHFR) plays a key role in the metabolism of folic acid and homocysteine. It has been reported that a common mutation of MTHFRC677T leads to a decrease in the activity of the enzyme accompanied by a change in the thermostability of the enzyme, and thus it is hypothesized that it may increase the risk of cardiovascular disease and neural tube defects. Despite the worldwide MTHFRC677T mutation in the allele