叶酸代谢基因MTHFR、MTRR多态性与疾病相关性的研究进展

Research Progress on the Correlation Between Folate Metabolism Gene MTHFR,MTRR Polymorphisms and Diseases

亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)与蛋氨酸合成酶还原酶(methionine synthase reductase,MTRR)是叶酸-蛋氨酸循环中的关键酶,它们在生物体内发挥着至关重要的作用而受到广泛关注。MTHFR C677T(rs1801133)、A1298C(rs1801131)和MTRR A66G(rs1801394)多态性可能导致其编码蛋白的改变,从而导致相应的酶活性降低,影响叶酸-蛋氨酸循环,引起体内同型半胱氨酸水平升高以及甲基化水平异常,造成多种疾病发生。但仍有一些疾病的发病机制不明确。本文对MTHFR、MTRR基因与相关的疾病研究进展作一综述,旨在为相关疾病的早期筛查及预防提供新的方向。

Methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)are the key enzymes in folate-methionine cycle,which play a vital role in the biological body and have been widely concerned.The polymorphisms of MTHFR C677T(rs1801133),A1298C(rs1801131),and MTRR A66G(rs1801394)may lead to alterations in the proteins they encode,which in turn lead to a decrease in the activity of the corresponding enzymes,affecting on the folate-methionine cycle,and causing an increase in the level of homocysteine and abnormal methylation level in vivo,contributing to the development of a variety of diseases.However,there are still some diseases with unclear pathogenesis.In this review,the research progress of MTHFR and MTRR genes and related diseases is reviewed,aiming to provide a new direction for the early screening and prevention of related diseases.