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Modelling Autistic Neurons with Induced Pluripotent Stem Cells

Annie Kathuria1,2, Carlo Sala3, Chiara Verpelli4

  • 1Centre for Stem Cells and Regenerative Medicine, King's College, London, UK.

Advances in Anatomy, Embryology, and Cell Biology
|May 29, 2017
PubMed

Insights

Autism spectrum disorder (ASD) research uses induced pluripotent stem cells (iPSCs) to model neurodevelopmental conditions. This review explores iPSC models for understanding ASD heterogeneity and co-occurring diseases.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting over 1% of children, characterized by social-communication deficits and restricted behaviors.
  • Current treatment limitations stem from clinical/genetic heterogeneity and poorly understood pathophysiological mechanisms.
  • Induced pluripotent stem cells (iPSCs), derived from adult cells, offer a powerful tool for studying human cellular phenotypes.

Purpose of the Study:

  • To systematically review the application of human iPSCs in modeling various autism spectrum disorder (ASD) variants.
  • To explore how iPSC-derived models contribute to understanding the cellular and molecular underpinnings of ASD.
  • To examine the use of iPSCs in modeling diseases co-occurring with ASD.

Main Methods:

  • Systematic literature review of studies utilizing human induced pluripotent stem cells (iPSCs) for autism spectrum disorder (ASD) modeling.
  • Analysis of research focusing on cellular and molecular phenotypes derived from iPSC lines of individuals with ASD.
  • Inclusion of studies investigating ASD-associated genetic variants and co-morbid conditions within iPSC models.

Main Results:

  • Human iPSCs enable the recapitulation of specific cellular and molecular phenotypes relevant to ASD.
  • iPSC-based models facilitate the investigation of genetic heterogeneity and its impact on ASD pathology.
  • The use of iPSCs aids in studying complex interactions between ASD and co-morbid conditions at a cellular level.

Conclusions:

  • Human iPSCs provide a valuable platform for dissecting the complex pathophysiology of autism spectrum disorder (ASD).
  • iPSC technology is crucial for advancing research into ASD variants and associated co-morbidities.
  • Further utilization of iPSC models promises to uncover novel therapeutic targets for ASD.

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