Intellectual disability (ID) is a neurodevelopmental disorder defined by below-average intelligence (intelligence quotient of <70) accompanied by adaptive behavior deficits. Defects in the functions of neural stem cells during brain development are closely linked to the pathogenesis of ID. To understand the molecular etiology of ID, we examined neural stem cells from individuals with Duchenne muscular dystrophy (DMD), a genetic disorder in which approximately one-third of the patients exhibit ID. In this study, we generated induced pluripotent stem cells from peripheral blood mononuclear cells from a normal individual and DMD patients with and without ID to identify ID-specific functional and molecular abnormalities. We found defects in neural ectoderm formation in the group of DMD patients with ID. Our transcriptome analysis of patient-derived neural stem cells revealed altered expression of genes related to the hippo signaling pathway and neuroactive ligand-receptor interaction, implicating these in the pathogenesis of ID in patients with DMD.

中文翻译：

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来自杜氏肌营养不良症和智力障碍患者的神经干细胞中基因表达谱的改变。

智力障碍 (ID) 是一种神经发育障碍，定义为智力低于平均水平（智商 <70）并伴有适应性行为缺陷。大脑发育过程中神经干细胞功能的缺陷与ID的发病机制密切相关。为了了解 ID 的分子病因，我们检查了杜氏肌营养不良症 (DMD) 患者的神经干细胞，DMD 是一种遗传性疾病，其中大约三分之一的患者表现出 ID。在这项研究中，我们从正常个体和有和没有 ID 的 DMD 患者的外周血单核细胞中产生诱导多能干细胞，以识别 ID 特异性的功能和分子异常。我们在患有 ID 的 DMD 患者组中发现了神经外胚层形成的缺陷。