Molecular Cellular Developmental Biology, University of Colorado, Boulder, Colorado, USA.
WIREs Mech Dis. 2022 Sep;14(5):e1559. doi: 10.1002/wsbm.1559. Epub 2022 May 3.
Neural tube closure (NTC) is crucial for proper development of the brain and spinal cord and requires precise morphogenesis from a sheet of cells to an intact three-dimensional structure. NTC is dependent on successful regulation of hundreds of genes, a myriad of signaling pathways, concentration gradients, and is influenced by epigenetic and environmental cues. Failure of NTC is termed a neural tube defect (NTD) and is a leading class of congenital defects in the United States and worldwide. Though NTDs are all defined as incomplete closure of the neural tube, the pathogenesis of an NTD determines the type, severity, positioning, and accompanying phenotypes. In this review, we survey pathogenesis of NTDs relating to disruption of cellular processes arising from genetic mutations, altered epigenetic regulation, and environmental influences by micronutrients and maternal condition. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics Neurological Diseases > Genetics/Genomics/Epigenetics Neurological Diseases > Stem Cells and Development.
神经管闭合（NTC）对于大脑和脊髓的正常发育至关重要，需要从细胞薄片精确地形成完整的三维结构。NTC 依赖于数百个基因的成功调控、无数的信号通路、浓度梯度，并受到表观遗传和环境线索的影响。NTC 的失败被称为神经管缺陷（NTD），是美国和全球范围内主要的先天性缺陷之一。尽管所有的 NTD 都被定义为神经管不完全闭合，但 NTD 的发病机制决定了其类型、严重程度、定位和伴随的表型。在这篇综述中，我们调查了与遗传突变、表观遗传调控改变以及微营养素和母体状况的环境影响导致细胞过程中断相关的 NTD 发病机制。本文归入以下类别：先天性疾病>遗传学/基因组学/表观遗传学神经疾病>遗传学/基因组学/表观遗传学神经疾病>干细胞和发育。
