摘要
亚甲基四氢叶酸还原酶(methylene tetrahydrofolatucte redase,MTHFR)是叶酸代谢过程中的关键酶,对叶酸和同型半胱氨酸的代谢以及DNA的合成、修复与甲基化均有重要作用。MTHFR基因变异导致酶热稳定性及活性降低,引起相关代谢及DNA甲基化异常,进而发生相关疾病。MTHFR具有多种变异型,本文对其中常见的一种C677T的多态性及其与疾病的相关性的研究进展做一综述。
Methylene tetrahydrofolate reductase （MTHFR） is one of the key enzymes of folate metabolism. It plays an important role not only in the metabolism of folate and homocysteine, but also in the synthesis, re- pair and methylation of DNA. The variant genotype enzymes of MTHFR have lower activity and heat stability than the wild genotype ones, which induces abnormal correlative metabolism and methylation of DNA, and then causes diseases. The C677T variant is one of the most common variants of MTHFR gene. In this review, we introduced current studies on the relationship between C677T variant and diseases.
出处
《生命的化学》
CAS
CSCD
2014年第5期696-700,共5页
Chemistry of Life
基金
国家自然科学基金项目(8130032)
关键词
亚甲基四氢叶酸还原酶
基因变异
单核苷酸多态性
methylene tetrahydrofolate reductase
gene variant
single nucleotide polymorphism
