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

作　　者：高岚 牛艺璇 李梦洋 徐磊 苏长海 GAO Lan;NIU Yixuan;LI Mengyang;XU Lei;SU Changhai(School of Pharmacy,Inner Mongolia Medical University,Hohhot 010110,China;Department of Pharmacy,Ordos Central Hospital,Ordos 017000,China;School of Pharmacy,Zhejiang University of Technology,Hangzhou 310014,China)

机构地区：[1]内蒙古医科大学药学院,呼和浩特010110 [2]鄂尔多斯市中心医院药剂科,内蒙古鄂尔多斯017000 [3]浙江工业大学药学院,杭州310014

出　　处：《中国现代应用药学》2024年第17期2447-2454,共8页Chinese Journal of Modern Applied Pharmacy

基　　金：内蒙古自治区科技计划项目(2022YFSH0107);鄂尔多斯市财政资助医学重点学科建设项目(鄂卫健发[2020]230号);医院药物警戒研究协作组医院药学科研专项课题(DRM2022019)。

摘　　要：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.

关 键 词：亚甲基四氢叶酸还原酶 蛋氨酸合成酶还原酶 多态性 叶酸 

分 类 号：R966[医药卫生—药理学]