Okuno Hironobu, Okano Hideyuki
Department of Physiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
Regen Ther. 2021 Aug 24;18:275-280. doi: 10.1016/j.reth.2021.08.001. eCollection 2021 Dec.
The neural crest is said to be the fourth germ layer in addition to the ectoderm, mesoderm and endoderm because of its ability to differentiate into a variety of cells that contribute to the various tissues of the vertebrate body. Neural crest cells (NCCs) can be divided into three functional groups: cranial NCCs, cardiac NCCs and trunk NCCs. Defects related to NCCs can contribute to a broad spectrum of syndromes known as neurocristopathies. Studies on the neural crest have been carried out using animal models such as , chicks, and mice. However, the precise control of human NCC development has not been elucidated in detail due to species differences. Using induced pluripotent stem cell (iPSC) technology, we developed an disease model of neurocristopathy by inducing the differentiation of patient-derived iPSCs into NCCs and/or neural crest derivatives. It is now possible to address complicated questions regarding the pathogenetic mechanisms of neurocristopathies by characterizing cellular biological features and transcriptomes and by transplanting patient-derived NCCs . Here, we provide some examples that elucidate the pathophysiology of neurocristopathies using disease modeling via iPSCs.
神经嵴因其能够分化为多种细胞，这些细胞对脊椎动物身体的各种组织都有贡献，所以被认为是除外胚层、中胚层和内胚层之外的第四种胚层。神经嵴细胞（NCCs）可分为三个功能组：颅神经嵴细胞、心脏神经嵴细胞和躯干神经嵴细胞。与神经嵴细胞相关的缺陷可导致一系列被称为神经嵴病的综合征。对神经嵴的研究已经在鸡、小鼠等动物模型上开展。然而，由于物种差异，人类神经嵴发育的精确调控尚未得到详细阐明。利用诱导多能干细胞（iPSC）技术，我们通过诱导患者来源的iPSC分化为神经嵴细胞和/或神经嵴衍生物，建立了一种神经嵴病的疾病模型。现在，通过表征细胞生物学特征和转录组以及移植患者来源的神经嵴细胞，可以解决有关神经嵴病发病机制的复杂问题。在这里，我们提供一些通过iPSC疾病建模阐明神经嵴病病理生理学的例子。
