Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
复制标题
DOI：
10.1161/01.cir.93.1.7
复制
发表时间：
1996-01-01
期刊：
影响因子：
37.8
通讯作者：
Rozen, R
中科院分区：
文献类型：
--
作者：
Jacques, PF;Bostom, AG;Rozen, R
亚甲基四氢叶酸还原酶（MTHFR）合成5-甲基四氢叶酸，5-甲基四氢叶酸是同型半胱氨酸再甲基化为蛋氨酸的主要碳供体。一个常见的MTHFR突变，丙氨酸到缬氨酸的取代，使酶的热不稳定性，并可能导致血浆水平升高的氨基酸homocysteine.Methods和结果要评估这种突变和维生素辅酶之间的潜在相互作用，在同型半胱氨酸代谢，我们筛选了365个人从NHLBI家庭心脏研究。在血浆叶酸浓度较低的个体中（
Background Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, the major carbon donor in remethylation of homocysteine to methionine. A common MTHFR mutation, an alanine-to-valine substitution, renders the enzyme thermolabile and may cause elevated plasma levels of the amino acid homocysteine.Methods and Results To assess the potential interaction between this mutation and vitamin coenzymes in homocysteine metabolism, we screened 365 individuals from the NHLBI Family Heart Study. Among individuals with lower plasma folate concentrations (