Effects of serum B vitamins on elevated plasma homocysteine levels associated with the mutation of methylenetetrahydrofolate reductase gene in Japanese
Effects of serum B vitamins on elevated plasma homocysteine levels associated with the mutation of methylenetetrahydrofolate reductase gene in Japanese
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DOI：
10.1016/s0021-9150(02)00105-3
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发表时间：
2002-10-01
期刊：
影响因子：
5.3
通讯作者：
Mabuchi, H
中科院分区：
文献类型：
--
作者：
Moriyama, Y;Okamura, T;Mabuchi, H
高血浆同型半胱氨酸是动脉粥样硬化的一个危险因素，通常是由酶基因的常见突变引起的，5,10-亚甲基四氢叶酸还原酶（MTHFR）， C677T（丙氨酸到缬氨酸的替代）或低摄入B族维生素影响同型半胱氨酸代谢中的再甲基化或转硫途径。然而，C677T突变与叶酸以外的B族维生素的相互作用尚未得到很好的阐明。我们对参加1996年健康检查的324名男性和641名女性进行了横断面调查，假设叶酸、维生素B12和维生素B6的高营养状态表现为高血清水平，可能补偿与C677T突变纯合子相关的高同型半胱氨酸血症，但不能补偿突变本身。纯合子基因型突变的男性和女性的年龄调整血浆同型半胱氨酸水平都高于杂合子或无突变的男性和女性。纯合子基因型的高同型半胱氨酸水平在血清中维生素B12和叶酸水平较高但维生素B6水平不高的人群中减弱，在低叶酸和高维生素B12组合以及高叶酸和高维生素B12组合的人群中减弱，按中位数分开。这些发现表明，日本人MTHFR基因突变纯合子基因型的高同型半胱氨酸水平可以通过补充维生素B12和叶酸有效地改善。(C) 2002爱思唯尔科学爱尔兰有限公司版权所有。
High plasma homocysteine, a risk factor for atherosclerosis, is frequently caused by a common mutation in the gene for the enzyme, 5,10-methylenetetrahydrofolate reductase (MTHFR), C677T (alanine to valine substitution) or low intake of B vitamins that affect the remethylation or transsulfuration pathways in homocysteine metabolism. However, the interaction of the C677T mutation and B vitamins other than folate has not been well elucidated. We conducted a cross-sectional survey of 324 men and 641 women who participated in a 1996 health examination under a hypothesis that high nutritional status of folate, vitamin B12 and vitamin B6 expressed as high serum levels, may compensate for the hyperhomocysteinemia associated with homozygosity for the C677T mutation, but not for having the mutation per se. Age-adjusted plasma homocysteine levels were higher for both men and women with the homozygous genotype for the mutation than those who were heterozygous or had no mutation. Elevated homocysteine levels in homozygous genotype was attenuated among persons with higher serum levels of vitamin B12 and folate, but not vitamin B6, and among persons with the combination of lower folate and higher vitamin B12 and of higher folate and higher vitamin B12, split by the median. These findings suggest that elevated homocysteine levels among Japanese with the homozygous genotype for the MTHFR gene mutation can be modified efficiently by dietary supplement of vitamin B12 as well as folate. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.