Methylenetetrahydrofolate reductase: A common human polymorphism and its biochemical implications

被引：39

作者：

Matthews, RG ^{[1
]}

机构：

[1] Univ Michigan, Biophys Res Div, Ann Arbor, MI 48109 USA

来源：

CHEMICAL RECORD | 2002年 / 2卷 / 01期

关键词：

flavoprotein; homocysteine; methionine;

D O I：

10.1002/tcr.10006

中图分类号：

O6 [化学];

学科分类号：

0703 ;

摘要：

Methlenctetrahydrofolate (CH2-H(4)folate) is required for the conversion of homocysteine to methionine and of dUMP to dTMP in support of DNA synthesis, and also serves as a major source of one carbon unit for purine biosynthesis. This review presents biochemical studies of a human polymorphism in methylenetetrahydrofolate reductase,which catalyzes the reaction shown below. The mutation decreases the flux of CH2-H(4)folate into CH3-H(4)folate, and is associated with both beneficial and deleterious effects that can be traced to the molecular effect of the substitution of alanine 222 by valine. (C) 2002 The Japan Chemical Journal Forum and John Wiley Sons, Inc.

引用

页码：4 / 12

页数：9

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