The Use of Stem Cells to Study Autism Spectrum Disorder |
| |
Authors: | Karthikeyan Ardhanareeswaran Gianfilippo Coppola Flora Vaccarino |
| |
Affiliation: | aChild Study Center, Yale School of Medicine, New Haven, Connecticut;bProgram in Neurodevelopment and Regeneration, Yale School of Medicine, New Haven, Connecticut;dDepartment of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, Connecticut;dYale Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, Connecticut;eDepartment of Neurobiology, Yale School of Medicine, New Haven, Connecticut |
| |
Abstract: | Autism spectrum disorder (ASD) affects as many as 1 in 68 children and is said to be the fastest-growing serious developmental disability in the United States. There is currently no medical cure or diagnostic test for ASD. Furthermore, the U.S. Food and Drug Administration has yet to approve a single drug for the treatment of autism’s core symptoms. Despite numerous genome studies and the identification of hundreds of genes that may cause or predispose children to ASD, the pathways underlying the pathogenesis of idiopathic ASD still remain elusive. Post-mortem brain samples, apart from being difficult to obtain, offer little insight into a disorder that arises through the course of development. Furthermore, ASD is a disorder of highly complex, human-specific behaviors, making it difficult to model in animals. Stem cell models of ASD can be generated by performing skin biopsies of ASD patients and then dedifferentiating these fibroblasts into human-induced pluripotent stem cells (hiPSCs). iPSCs closely resemble embryonic stem cells and retain the unique genetic signature of the ASD patient from whom they were originally derived. Differentiation of these iPSCs into neurons essentially recapitulates the ASD patient’s neuronal development in a dish, allowing for a patient-specific model of ASD. Here we review our current understanding of the underlying neurobiology of ASD and how the use of stem cells can advance this understanding, possibly leading to new therapeutic avenues. |
| |
Keywords: | autism autism spectrum disorder stem cells induced pluripotent stem cells |
|
|