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Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs
Shi, Lei1,2; Huang, Lihua3; He, Ruojie1; Huang, Weijun3; Wang, Huiyan3; Lai, Xingqiang3; Zou, Zhengwei3; Sun, Jiaqi3; Ke, Qiong3; Zheng, Minying1; Lu, Xilin1; Pei, Zhong1; Su, Huanxing4; Xiang, Andy Peng3,5; Li, Weiqiang3,5; Yao, Xiaoli1
2018-01-09
Source PublicationSTEM CELL REPORTS
ISSN2213-6711
Volume10Issue:1Pages:120-133
Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent stem cell (hiPSC) lines from two CMT1A patients as an in vitro cell model. We found that, unlike the normal control cells, CMT1A hiPSCs rarely generated Schwann cells through neural crest stem cells (NCSCs). Instead, CMT1A NCSCs produced numerous endoneurial fibroblast-like cells in the Schwann cell differentiation system, and similar results were obtained in a PMP22-overexpressing iPSC model. Therefore, despite the demyelination-remyelination and/or dysmyelination theory for CMT1A pathogenesis, developmental disabilities of Schwann cells may be considered as an underlying cause of CMT1A. Our results may have important implications for the uncovering of the underlying mechanism and the development of a promising therapeutic strategy for CMT1A neuropathy.

DOI10.1016/j.stemcr.2017.11.013
URLView the original
Indexed BySCI
Language英语
WOS Research AreaCell Biology
WOS SubjectCell & Tissue Engineering ; Cell Biology
WOS IDWOS:000419589400010
PublisherCELL PRESS
The Source to ArticleWOS
Fulltext Access
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Cited Times [WOS]:8   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
CollectionInstitute of Chinese Medical Sciences
Corresponding AuthorLi, Weiqiang; Yao, Xiaoli
Affiliation1.Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China
2.Division of Neurosurgical Intensive Care Unit, Department of Critical Care Medicine, The First Affifiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China
3.Center for Stem Cell Biology and Tissue Engineering, Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Sun Yat-Sen University, Guangzhou 510080, China
4.State Key Laboratory of Quality Research in Chinese Medicine, Institute of Chinese Medical Sciences, University of Macau, Macao 999078, China
5.Department of Biochemistry, Zhongshan Medical School, Sun Yat-sen University, Guangzhou 510080, China
Recommended Citation
GB/T 7714
Shi, Lei,Huang, Lihua,He, Ruojie,et al. Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs[J]. STEM CELL REPORTS,2018,10(1):120-133.
APA Shi, Lei.,Huang, Lihua.,He, Ruojie.,Huang, Weijun.,Wang, Huiyan.,...&Yao, Xiaoli.(2018).Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs.STEM CELL REPORTS,10(1),120-133.
MLA Shi, Lei,et al."Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs".STEM CELL REPORTS 10.1(2018):120-133.
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