Properties of enzymes involved in methionine biosynthesis in mammals

已实现人甲硫氨酸合酶、甲硫氨酸合酶还原酶（MSR）和亚甲基四氢叶酸还原酶（MTHFR）的表达和纯化。MSR基因66A> G多态性对蛋白质功能无影响。此外，在严重的MTHFR缺陷患者中发现的基因突变的影响进行了检查，即。e.对这些突变蛋白的性质进行了生物化学表征。此外，以嗜热栖热菌HB8 MTHFR为模型的蛋白质结构分析合理地解释了基因突变对蛋白质性质的影响。

Expression and purification of human methionine synthase, methionine synthase reductase(MSR), and methylenetetrahydrofolate reductase(MTHFR) have been achieved. A common polymorphism in MSR gene, 66A> G, did not influence on protein function. Also, effects of gene mutations found in severe MTHFR-deficient patients were examined, i. e. properties of these mutant proteins were biochemically characterized. In addition, protein structural analysis using Thermus thermophilus HB8 MTHFR as model rationally explained how the gene mutations affected protein properties.