Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social cognition, language development, and repetitive/restricted behaviors. Due to the complexity and heterogeneity of ASD and lack of a proper human cellular model system, the pathophysiological mechanism of ASD during the developmental process is largely unknown. However, recent progress in induced pluripotent stem cell (iPSC) technology as well as in vitro neural differentiation techniques have allowed us to functionally characterize neurons and analyze cortical development during neural differentiation. These technical advances will increase our understanding of the pathogenic mechanisms of heterogeneous ASD and help identify molecular biomarkers for patient stratification as well as personalized medicine. In this review, we summarize our current knowledge of iPSC generation, differentiation of specific neuronal subtypes from iPSCs, and phenotypic characterizations of human ASD patient-derived iPSC models. Finally, we discuss the current limitations of iPSC technology and future directions of ASD pathophysiology studies using iPSCs.
Highlights
Autism spectrum disorder (ASD), which is characterized, in varying degrees, by difficulties in social interactions, verbal and nonverbal communications, and by repetitive behaviors, is complex disorders of brain development
Perspectives: limitations and future directions induced pluripotent stem cell (iPSC) research Despite numerous studies underlying the pathophysiological mechanism of ASD using iPSCs, several concerns should be addressed before iPSC research [155, 156]
A recent study showed that a modular, robotic platform for iPSC reprogramming enabled automated, high-throughput conversion of skin fibroblasts into iPSCs and their characterization/differentiation with minimal manual intervention [157]
Summary
Autism spectrum disorder (ASD), which is characterized, in varying degrees, by difficulties in social interactions, verbal and nonverbal communications, and by repetitive behaviors, is complex disorders of brain development. In vitro studies on neural differentiation using human embryonic stem cells (ESCs) have been suggested for understanding of human neurodevelopment, there remain numerous practical or ethical issues [16, 17] To overcome these obstacles, induced pluripotent stem cells (iPSCs) technology, which allows the generation of personalized human neurons from ASD patients, has been used for studying the pathophysiology of ASD [18,19,20]. In this case, human neurodevelopment, which cannot be addressed in an animal model in vitro or in vivo, can be tracked using personalized iPSCs from ASD patients under an individual genetic background.
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