Center for Genetic Medicine, Children's Research Institute, Children's National Medical Center, Washington, DC, USA.
Adv Exp Med Biol. 2020;1236:39-64. doi: 10.1007/978-981-15-2389-2_2.
During embryonic development, the central nervous system forms as the neural plate and then rolls into a tube in a complex morphogenetic process known as neurulation. Neural tube defects (NTDs) occur when neurulation fails and are among the most common structural birth defects in humans. The frequency of NTDs varies greatly anywhere from 0.5 to 10 in 1000 live births, depending on the genetic background of the population, as well as a variety of environmental factors. The prognosis varies depending on the size and placement of the lesion and ranges from death to severe or moderate disability, and some NTDs are asymptomatic. This chapter reviews how mouse models have contributed to the elucidation of the genetic, molecular, and cellular basis of neural tube closure, as well as to our understanding of the causes and prevention of this devastating birth defect.
在胚胎发育过程中，中枢神经系统由神经板形成，然后在一个称为神经胚形成的复杂形态发生过程中卷成管状。当神经胚形成失败时，就会发生神经管缺陷（NTD），这是人类中最常见的结构出生缺陷之一。NTD 的频率在任何地方都有很大差异，从每 1000 例活产儿中有 0.5 到 10 例不等，这取决于人群的遗传背景以及各种环境因素。预后取决于病变的大小和位置，从死亡到严重或中度残疾不等，有些 NTD 则没有症状。本章回顾了小鼠模型如何有助于阐明神经管闭合的遗传、分子和细胞基础，以及我们对这种毁灭性出生缺陷的原因和预防的理解。
