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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 a common type of birth defects that seriously threaten the physical and mental health of women and children and the improvement of population quality, which bring heavy burden to the development of society and can cause miscarriage, infant death and lifetime Disability. NTDs can be divided into no brain, encephalocele and spina bifida three types, the etiology and specific pathogenesis is not yet clear. Most domestic and foreign studies suggest that NTDs are a serious genetic mutation caused by genetic polymorphism and environmental factors, and we can not explain the occurrence of the disease by a single factor. The current research focus is on the relationship between susceptibility genes and NTDs. The endothelial nitric oxide synthase (eNOS) gene has recently been considered as an important candidate gene for the development of NTDs. Point mutations in eNOS gene or a series of mutations can lead to changes in enzyme activity, so that eNOS upregulation, causing abnormal secretion of NO, promote neuronal apoptosis, leading to brain dysplasia. This article reviews the association between eNOS gene polymorphisms and NTDs.