叶酸状况之间的关系,甲基酸酸减少酶的常见突变,和血同型氨酸度之间的关系
P F Jacques1, A G Bostom, R R Williams
1Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, Mass, USA.
患有常见MTHFR突变的个体可能需要更多的叶酸. 较低的叶酸水平与这种突变相结合,显著增加了心血管疾病的风险因素 - - 同型半氨酸.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 营养科学 营养科学
背景情况:
- 甲基四叶酸减少酶 (MTHFR) 对于叶酸代谢至关重要,合成5-甲基四叶酸.
- 一种常见的MTHFR突变 (氨酸替代氨酸) 导致一种可热酶.
- 这种突变会导致血homocysteine水平升高,这是心血管疾病的危险因素.
研究的目的:
- 为了研究MTHFR突变与 homocysteine代谢中的叶酸水平之间的相互作用.
- 为了确定叶酸状况是否会改变MTHFR突变对同类半氨酸水平的影响.
主要方法:
- 从NHLBI家庭心脏研究中对365个人的查.
- 对常见的MTHFR突变进行基因定型.
- 测量血叶酸和全禁食同型半氨酸度.
主要成果:
- 在低血叶酸 (<15.4nmol/L) 个体中,同卵性MTHFR突变基因型与24%更高的同类蛋白水平 (P<.05) 相关.
- 在具有足够叶酸水平 (≥15.4nmol/L) 的个体中,基因型之间没有观察到同型氨酸水平的显著差异.
结论:
- 具有热可移的MTHFR突变的个体可能有增加的叶酸需求.
- 叶酸补充可能对于预防这种突变的个体的高同胞蛋白血症至关重要.
- 维持足够的叶酸水平对于管理MTHFR突变患者的同型半氨酸度很重要.
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