MTHFR C677T基因多态性与脑小血管病的相关性研究进展

Research Progress in Relationship between Methylenetetrahydrofolate Reductase C677T Gene Polymorphism and Cerebral Small Vessel Disease

亚甲基四氢叶酸还原酶(MTHFR)影响了缺血性脑卒中发生的各个环节,其位点C677T基因突变会大大降低酶活性和耐热性,致使同型半胱氨酸在体内积蓄,高同型半胱氨酸血症(HHcy)通过损伤血管内皮功能造成靶器官的损害,尤其是对具有明显遗传易感性的脑小血管病(CSVD)。CSVD是导致老年人运动与认知功能障碍的重要危险因素,其在脑磁共振成像上以脑白质高信号、腔隙性脑梗死、血管周围间隙扩大、脑微出血及脑萎缩为特征。近年来,一些研究从MTHFR C677T基因型多态性的角度阐明了HHcy与CSVD各个亚型之间的关系及致病机制,从而为未来CSVD的防治提供了新途径。

Methylenetetrahydrofolate reductase(MTHFR) affects every link of ischemic stroke. The mutation of C677T gene will greatly reduce the enzyme activity and heat resistance,resulting in the accumulation of homocysteine in the body. Hyperhomocysteinemia (HHcy) causes target organ damage by damaging vascular endothelial function,especially for cerebral small vessel disease(CSVD) with obvious genetic susceptibility.CSVD is an important risk factor leading to motor and cognitive dysfunction in the elderly,which is characterized by white matter hyperintensities,lacunar infarction,enlargement of perivascular space,cerebral microbleeds and cerebral atrophy on brain magnetic resonance imaging.In recent years,some studies have clarified the pathogenesis and relationship between HHcy and CSVD subtypes from the perspective of MTHFR C677T genotype polymorphism,thus providing a new way for the prevention and treatment of CSVD in the future.