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Application of Human‐Induced Pluripotent Stem Cells (hiPSCs) to Study Synaptopathy of Neurodevelopmental Disorders
Author(s) -
Shen Xuting,
Yeung Hoi Ting,
Lai KwokOn
Publication year - 2019
Publication title -
developmental neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.716
H-Index - 129
eISSN - 1932-846X
pISSN - 1932-8451
DOI - 10.1002/dneu.22644
Subject(s) - synaptogenesis , neuroscience , biology , disc1 , induced pluripotent stem cell , mecp2 , schizophrenia (object oriented programming) , autism , neurodevelopmental disorder , genetics , embryonic stem cell , gene , psychology , phenotype , psychiatry , developmental psychology
Synapses are the basic structural and functional units for information processing and storage in the brain. Their diverse properties and functions ultimately underlie the complexity of human behavior. Proper development and maintenance of synapses are essential for normal functioning of the nervous system. Disruption in synaptogenesis and the consequent alteration in synaptic function have been strongly implicated to cause neurodevelopmental disorders such as autism spectrum disorders ( ASD s) and schizophrenia ( SCZ ). The introduction of human‐induced pluripotent stem cells (hi PSC s) provides a new path to elucidate disease mechanisms and potential therapies. In this review, we will discuss the advantages and limitations of using hi PSC ‐derived neurons to study synaptic disorders. Many mutations in genes encoding for proteins that regulate synaptogenesis have been identified in patients with ASD s and SCZ . We use Methyl‐CpG binding protein 2 ( MECP2 ), SH 3 and multiple ankyrin repeat domains 3 ( SHANK3 ) and Disrupted in schizophrenia 1 ( DISC1 ) as examples to illustrate the promise of using hi PSC s as cellular models to elucidate the mechanisms underlying disease‐related synaptopathy.