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无脑回畸形的体外模型:在神经发生过程中拓展 DCX 的作用。

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.

机构信息

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Laboratory of Genetics, Salk Institute for Biological Studies, La Jolla, CA, USA.

出版信息

Mol Psychiatry. 2018 Jul;23(7):1674-1684. doi: 10.1038/mp.2017.175. Epub 2017 Sep 19.

Abstract

Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe neurological impairment and developmental delay. Mutations in the X-chromosomal gene DCX, encoding doublecortin, is the main cause of classical lissencephaly. Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease. In the absence of relevant animal models and patient brain specimens, we took advantage of induced pluripotent stem cell (iPSC) technology to model the disease. We established human iPSCs from two males with mutated DCX and classical lissencephaly including smooth brain and abnormal cortical morphology. The disease was recapitulated by differentiation of iPSC into neural cells followed by expression profiling and dissection of DCX-associated functions. Here we show that neural stem cells, with absent or reduced DCX protein expression, exhibit impaired migration, delayed differentiation and deficient neurite formation. Hence, the patient-derived iPSCs and neural stem cells provide a system to further unravel the functions of DCX in normal development and disease.

摘要

无脑回畸形包括一系列因皮质神经元迁移异常所致的脑畸形。经典无脑回畸形的特征为脑表面光滑和皮质增厚,导致癫痫发作、严重神经功能损伤和发育迟缓。编码双皮质蛋白(DCX)的 X 染色体基因的突变是经典无脑回畸形的主要病因。我们对 DCX 相关无脑回畸形的大部分了解来自对患者大脑的尸检分析,主要是因为 DCX 突变的动物模型不能模拟该疾病。由于缺乏相关的动物模型和患者大脑标本,我们利用诱导多能干细胞(iPSC)技术来对疾病建模。我们从两名男性患者中建立了携带突变 DCX 的人类 iPSC,这些患者患有经典无脑回畸形,包括脑表面光滑和皮质形态异常。通过将 iPSC 分化为神经细胞,随后进行表达谱分析和 DCX 相关功能的剖析,重现了疾病。我们发现,神经干细胞中缺乏或减少的 DCX 蛋白表达,会导致细胞迁移受损、分化延迟和轴突形成缺陷。因此,源自患者的 iPSC 和神经干细胞为进一步阐明 DCX 在正常发育和疾病中的功能提供了一个系统。

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