Induced pluripotent stem cells for modeling of pediatric neurological disorders.
The pathophysiological mechanisms underlying childhood neurological disorders have remained obscure due to a lack of suitable disease models reflecting human pathogenesis. Using induced pluripotent stem cell (iPSC) technology, various neurological disorders can now be extensively modeled. Specifically, iPSC technology has aided the study and treatment of early-onset pediatric neurodegenerative diseases such as Rett syndrome, Down syndrome, Angelman syndrome. Prader-Willi syndrome, Friedreich's ataxia, spinal muscular atrophy (SMA), fragile X syndrome, X-linked adrenoleukodystrophy (ALD), and SCN1A gene-related epilepsies. In this paper, we provide an overview of various gene delivery systems for generating iPSCs, the current state of modeling early-onset neurological disorders and the ultimate application of these in vitro models in cell therapy through the correction of disease-specific mutations.
Department of Physiology, Yonsei University College of Medicine, Seoul, Korea.
Jiho
J
Jang
Zhejiu
Z
Quan
Yunjin J
YJ
Yum
Hyo Sook
HS
Song
Seonyeol
S
Paek
Hoon-Chul
HC
Kang
D000818:Animals; D002648:Child; D002657:Child Development / Q000502:physiology; D004195:Disease Models, Animal; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology*; D008959:Models, Neurological; D009422:Nervous System Diseases / Q000628:therapy*; D019636:Neurodegenerative Diseases / Q000628:therapy*
Cell-based therapy; Disease modeling; Drug screening; Induced pluripotent stem cells; Pediatric neurological disorders