Understanding the molecular basis of autism in a dish using hiPSCs-derived neurons from ASD patients

Mol Brain. 2015 Sep 30;8(1):57. doi: 10.1186/s13041-015-0146-6.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology*
  • Cell Differentiation
  • Cellular Reprogramming
  • Embryoid Bodies / cytology
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Neurons / cytology*