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首页> 外文期刊>Molecular genetics and metabolism >Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5'-phosphate concentration.
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Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5'-phosphate concentration.

机译：血浆同型半胱氨酸浓度，胱硫醚β-合酶基因的844ins68变体与吡ido醛5'-磷酸盐浓度之间的关系。

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摘要

A moderately elevated plasma total homocysteine (tHcy), whether measured during fasting or post-methionine load (PML), is recognized as a risk factor for coronary artery diseases (CAD). Cystathionine beta-synthase (CBS), a key enzyme in the transsulfuration pathway, is important for the metabolism of homocysteine. In recent years, a relatively prevalent mutation, the 844ins68 (68-bp insertion), was found to be carried by about 12% of the general population. In the current investigation, we studied 741 individuals with respect to the effect of the 68-bp insertion of the CBS gene on fasting and PML tHcy, and also determined the level of pyridoxal-5'-phosphate (vitamin B(6)), a cofactor of the CBS enzyme. Our results showed that the mean fasting and PML increase in tHcy levels were lower in individuals carrying the 844ins68 variant compared to those without the insertion; although only the difference in PML increase in tHcy reached statistical significance (P = 0.02). When these individuals were divided into two groups based on vitamin B(6) concentration, the PML increase in tHcy was significantly lower in individuals heterozygous for the insertion compared to those without the insertion only in the group of individuals whose vitamin B(6) concentrations were below the sample median (38.0 nmol/L). We speculate that the 68-bp insertion is associated with somewhat higher levels of CBS enzyme activity, and that the effect of this becomes more pronounced in the presence of relatively low concentrations of pyridoxal-5'-phosphate, a cofactor of the CBS enzyme. Copyright 1999 Academic Press.
机译：无论是在禁食期间还是在蛋氨酸负荷后（PML）测量，血浆总同型半胱氨酸（tHcy）的适度升高被认为是冠状动脉疾病（CAD）的危险因素。胱硫醚β合酶（CBS）是转硫途径中的关键酶，对高半胱氨酸的代谢很重要。近年来，发现一种相对普遍的突变844ins68（插入68 bp）携带了约12％的普通人群。在目前的研究中，我们研究了741个人的CBS基因插入68 bp对禁食和PML tHcy的影响，并确定了吡ido醛5'-磷酸（维生素B（6））的水平， CBS酶的辅助因子。我们的结果表明，携带844ins68变体的个体与没有插入的个体相比，tHcy水平的平均空腹和PML增加较低;尽管只有tHcy的PML升高差异达到了统计显着性（P = 0.02）。当根据维生素B（6）的浓度将这些人分为两组时，与仅在维生素B（6）浓度的人群中没有插入的人群相比，杂合插入的tHcy的PML升高显着较低低于样品中位数（38.0 nmol / L）。我们推测68-bp的插入与CBS酶活性水平较高有关，并且在存在相对较低浓度的CBS酶辅因子吡ido醛-5'-磷酸的情况下，这种作用会更加明显。版权所有1999 Academic Press。

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