Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan
Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan
复制标题
DOI：
10.1007/s00394-004-0472-4
复制
发表时间：
2004-01
影响因子：
5
通讯作者：
N. Takamura;T. Kondoh;Syohei Ohgi;K. Arisawa;M. Mine;S. Yamashita;K. Aoyagi
中科院分区：
文献类型：
--
作者：
N. Takamura;T. Kondoh;Syohei Ohgi;K. Arisawa;M. Mine;S. Yamashita;K. Aoyagi
总结。背景：日本一直被认为是“叶酸充足的地区”，因为传统的日本食物中含有足量的叶酸。然而，最近日本年轻母亲的西化饮食方式可能会影响她们的叶酸摄入量。这种饮食方式可能会导致唐氏综合症的发生，而唐氏综合症已被证明与叶酸和同型半胱氨酸代谢异常有关。研究目的：初步评价日本唐氏综合征孕妇叶酸水平、同型半胱氨酸水平及与叶酸代谢相关的其他相关因素。方法：采集31例唐氏综合征孕妇的血液样本。还从没有经历过流产或异常妊娠（CONT）的母亲那里获得了60份年龄匹配的对照血液样本。比较DS组和CONT组的血浆同型半胱氨酸、血清叶酸、维生素B12和B6，以及MTHFR多态性（C677T）的频率。结果：DS母亲血浆同型半胱氨酸水平显著升高（p = 0.004）。相比之下，DS母亲的血清叶酸水平显著降低（p = 0.0001）。维生素B12和B6水平与对照组无显著差异，5,10-亚甲基四氢叶酸还原酶基因（MTHFR）纯合多态性频率与对照组无显著差异。结论：即使在日本，两组血清叶酸和血浆同型半胱氨酸水平的差异也可能与唐氏综合征的发生有关。虽然两组间MTHFR多态性的频率没有明显差异，可能是样本量不够，但进一步的研究可能有助于了解日本唐氏综合征的发生。
Summary.Background:Japan has been considered as “a folate sufficient area”, since traditional Japanese food contains an adequate amount of folic acid. However, the recent westernized food style of young Japanese mothers may affect the intake of folic acid among them. This food style may contribute to the occurrence of Down syndrome, which has proved to be linked to abnormal folate and homocysteine metabolisms.Aim of the study:To preliminarily evaluate the levels of folic acid,homocysteine and other relevant factors which are associated with folate metabolism, among Japanese women who had pregnancies affected by Down syndrome.Methods:Blood samples from 31 women who had pregnancies affected by Down syndrome (DS) were obtained. 60 age-matched control blood samples were also obtained from mothers who had not experienced miscarriages or abnormal pregnancies (CONT). Plasma homocysteine and serum folic acid, vitamin B12, and B6 were measured and compared between DS and CONT. Furthermore, the frequency of MTHFR polymorphism (C677T) was also investigated.Results:Plasma levels of homocysteine were significantly increased in DS mothers (p = 0.004). In contrast, serum levels of folic acid were significantly decreased in DS mothers (p = 0.0001). There were no significant differences in the vitamin B12 and B6 levels between DS and CONT. Also, the frequency of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) homozygous polymorphism showed no differences between DS and CONT.Conclusion:Different levels of serum folic acid and plasma homocysteine between both groups may contribute to the occurrence of Down syndrome even in Japan. Although there was no significant difference in the frequency of MTHFR polymorphism between the groups, probably because of an inadequate number of samples, further studies may contribute to the understanding of the occurrence of Down syndrome in Japan.