Blom Henk J, Shaw Gary M, den Heijer Martin, Finnell Richard H
Laboratory of Pediatrics and Neurology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Post Office Box 9101, 6500 HB Nijmegen, The Netherlands.
Nat Rev Neurosci. 2006 Sep;7(9):724-31. doi: 10.1038/nrn1986.
Neural tube closure takes place during early embryogenesis and requires interactions between genetic and environmental factors. Failure of neural tube closure is a common congenital malformation that results in morbidity and mortality. A major clinical achievement has been the use of periconceptional folic acid supplements, which prevents approximately 50-75% of cases of neural tube defects. However, the mechanism underlying the beneficial effects of folic acid is far from clear. Biochemical, genetic and epidemiological observations have led to the development of the methylation hypothesis, which suggests that folic acid prevents neural tube defects by stimulating cellular methylation reactions. Exploring the methylation hypothesis could direct us towards additional strategies to prevent neural tube defects.
神经管闭合发生在胚胎发育早期，需要遗传因素和环境因素之间的相互作用。神经管闭合失败是一种常见的先天性畸形，会导致发病和死亡。一项重大的临床成果是在受孕前补充叶酸，这可预防约50%-75%的神经管缺陷病例。然而，叶酸有益作用的潜在机制尚不清楚。生化、遗传和流行病学观察结果促使了甲基化假说的提出，该假说认为叶酸通过刺激细胞甲基化反应来预防神经管缺陷。探索甲基化假说可能会为我们提供预防神经管缺陷的其他策略。
