叶酸调节基因MTHFR、MTRR多态性与相关疾病的研究进展

高岚; 牛艺璇; 李梦洋; 徐磊; 苏长海

引用本文:	高岚,牛艺璇,李梦洋,徐磊,苏长海.叶酸调节基因MTHFR、MTRR多态性与相关疾病的研究进展[J].中国现代应用药学,2024,41(17):79-86.
	gaolan,Niu Yixuan,Li Mengyang,Xu Lei,Su Changhai.Research progress on polymorphisms of folate regulatory genes MTHFR and MTRR and related diseases[J].Chin J Mod Appl Pharm(中国现代应用药学),2024,41(17):79-86.

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叶酸调节基因MTHFR、MTRR多态性与相关疾病的研究进展
高岚¹, 牛艺璇², 李梦洋³, 徐磊², 苏长海²
1.内蒙古医科大学;2.鄂尔多斯市中心医院;3.浙江工业大学药学院

摘要:

亚甲基四氢叶酸还原酶(MTHFR)与蛋氨酸合成酶还原酶(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)多态性的突变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,与MTHFR和MTRR的相关性由于地理饮食的差异存在着很大争议。该文对MTHFR、MTRR基因与相关的疾病研究进展做一综述,旨在为相关疾病的早期筛查及预防提供新的方向。

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

DOI：10.13748/j.cnki.issn1007-7693.20232994

分类号:

基金项目:鄂尔多斯市医学重点学科建设资助(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)

Research progress on polymorphisms of folate regulatory genes MTHFR and MTRR and related diseases

gaolan¹, Niu Yixuan², Li Mengyang³, Xu Lei², Su Changhai²

1.Inner Mongolia Medical University;2.Ordors Central Hospital;3.School of Pharmacy, Zhejiang University of Technology

Abstract:

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 presence of polymorphic sites 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, and the correlation with MTHFR and MTRR is highly controversial due to geographic dietary differences. 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.

Key words: methylenetetrahydrofolate reductase methionine synthase reductase polymorphism folic acid