摘要
神经管畸形（neural tube defects,NTDs）是由于胚胎发育过程中,神经管闭合不全所引起的一种出生缺陷,主要表型包括无脑儿、脊柱裂及脑或脑脊膜膨出等。补充叶酸只能预防50%~70%NTDs的发生,除叶酸外,肌醇（inositol）及其代谢通路基因对NTDs发生的影响是尚待阐明的病因学问题之一。研究发现,肌醇补充可预防叶酸抵抗型NTDs,且其代谢通路关键基因与NTDs发生相关。因此,本文就肌醇代谢通路关键基因与NTDs的关系进行综述,以期为NTDs发病机制的深入研究及防治提供参考。
Neural tube defects （NTDs） , including anencephaly, spina bifida and encephalocele or cerebral meningocele, are a birth defect resulting from the failure of neural tube closure during embryonic development. Folic acid supplement can prevent 50%-70% NTDs. However, in addition to folic acid, the effect of inositol and genes in its metabolic pathway for NTDs is one of the etiology problems which remain to be elucidated. Studies have found that inositol supplement can prevent folic acid-resistant NTDs and the key genes in its metabolic pathways are associated with the NTDs. Therefore, this article reviews the relationship between the key genes in the inositol metabolic pathways and NTDs, providing references for the depth study of NTDs pathogenesis and orevention.
出处
《中国优生与遗传杂志》
2014年第10期1-3,6,共4页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金资助项目(No.81070491)
关键词
神经管畸形
肌醇
基因
Neural tube defects
Inositol
Gene
