Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects more than 1% of children per current estimates. It has been characterised by the following two core behavioural phenotypes: (1) deficits in social interaction and communication and (2) repetitive behaviours, restricted interests and activities. Due to the complex nature of ASD, there are currently no effective treatments. The reason behind this is the clinical and genetic heterogeneity between affected individuals on the one hand and the lack of understanding of the underpinning pathophysiological mechanisms on the other hand. Induced pluripotent stem cells (iPSCs) are reprogrammed stem cells from adult cells. These have the capacity to self-renew and differentiate into any type of cells in the body. Therefore, human iPSCs provide a unique opportunity to study the human cellular and molecular phenotypes associated with ASD. Here, we systematically review various ASD variants and co-morbid diseases modelled using human iPSCs.
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Acknowledgements
This work was supported by the National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, King’s College London and by EU-AIMS, which receives support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no.115300, resources of which are composed of financial contributions from the European Union's Seventh Framework Programme (P7/2007–2013), from EFPIA companies in kind contribution and from Autism Speaks.
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Kathuria, A., Sala, C., Verpelli, C., Price, J. (2017). Modelling Autistic Neurons with Induced Pluripotent Stem Cells. In: Schmeisser, M., Boeckers, T. (eds) Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Advances in Anatomy, Embryology and Cell Biology, vol 224. Springer, Cham. https://doi.org/10.1007/978-3-319-52498-6_3
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