eNOS基因多态性与神经管畸形的研究进展

Advances in Researches Between Polymorphisms of eNOS Gene and NTDs

神经管畸形(neural tube defects,NTDs)是一类常见的出生缺陷,严重威胁着妇女儿童的身心健康和人口素质的提高,给社会的发展带来沉重负担,可引起孕妇流产、婴儿死亡和终生残疾。NTDs可分为无脑儿、脑膨出和脊柱裂三种类型,其病因和具体的发病机制尚不清楚。国内外多数研究认为,NTDs是一种由基因的多态性和环境因素所引起的严重的基因突变,还不能用一种单一原因来解释该病的发生。目前的研究热点是易感基因与NTDs的关系,内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因最近已被认为是导致NTDs发生的重要候选基因。eNOS基因的点突变或成串突变可以导致酶活性的变化,使eNOS的表达上调,引起NO分泌的异常,促进神经元的凋亡,进而导致大脑的发育异常。本文从eNOS基因多态性与NTDs的相关性研究进行综述。

Neural tube defects （NTDs） are common birth defects, which seriously threaten the physical and mental health of women and children, and the improvement of population quality, lead a great burden on the development of the society, it can cause preg-nant women abortion, infant mortality and permanent disability. NTDs can divide into three kinds including： anencephalus, encephalo- cele, spina bifida. Its etiology and specific mechanism is unclear. Most of the research at home and abroad consider that NTDs are serious gene mutation which caused by one kind of gene polymorphisrn and environmental factors, it has been not yet to explain the occurrence of the disease by a single reason. Research hotspot at present is the relationship between susceptibility gene and NTDs. Endothelial nitric oxide synthase（eNOS）gene has been recently regarded as the important candidate genes which lead to NTDs. The point mutation or string mutations of eNOS can cause the change of enzyme activity, which can cause eNOS expression up-regulation, lead the abnormal secre-tion of NO, promote neuron apoptosis, and then lead to abnormalities growth of the brain. This article will summarize relevant research between the gene polymorphism of eNOS and NTDs.