Altered gene expression profiles in neural stem cells derived from duchenne muscular dystrophy patients with intellectual disability

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Title
Altered gene expression profiles in neural stem cells derived from duchenne muscular dystrophy patients with intellectual disability
Author(s)
Jahong Koo; Subin Park; Soo Eun Sung; J Lee; Dae Soo KimJungwoon LeeJae-Ran LeeNam-Soon KimDa Yong Lee
Bibliographic Citation
Experimental Neurobiology, vol. 30, no. 4, pp. 263-274
Publication Year
2021
Abstract
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
Keyword
Duchenne muscular dystrophyInduced pluripotent stem cellGene expressionIntellectual disability
ISSN
1226-2560
Publisher
Korea Soc-Assoc-Inst
DOI
http://dx.doi.org/10.5607/en21008
Type
Article
Appears in Collections:
Division of Research on National Challenges > Environmental diseases research center > 1. Journal Articles
Division of Biomedical Research > Rare Disease Research Center > 1. Journal Articles
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