The PTEN/mTOR pathway in autism spectrum disorders

Abstract

Event Abstract Back to Event The PTEN/mTOR pathway in autism spectrum disorders Jason Howitt1* 1 The University of Melbourne, Florey Institute of Neuroscience and Mental Health, Australia Autism spectrum disorders (ASDs) are a common cause of neurodevelopmental disability and are presumed secondary to abnormal early brain development. Recent evidence implicates several hundred genes as risk factors for the disorder. This large genetic heterogeneity for ASD presents a substantial obstacle to developing therapies. To overcome this hurdle we have investigated a single gene variant syndrome involving PTEN, which causes autism with macrocephaly. PTEN negatively regulates the PI3K/AKT/mTOR signalling pathway which is centrally important to both normal brain development and human neurological disorders. We have created a new mouse model of PTEN loss during development (PTEN-ASD) that results in brain overgrowth, as well as a number of phenotypes associated with comorbidities observed in autism with macrocephaly patients. Behavioural testing indicated that developmental deletion of PTEN resulted in a loss of motor coordination and somatosensory reflexes. The PTEN-ASD mouse model was further investigated to understand the prenatal development of ASD and the changes in brain architecture that result in behavioural deficits. We demonstrate that this PTEN-ASD mouse model can be used for pre-clinical testing of drugs to rescue phenotypes of PTEN loss related to ASD. Keywords: autism, neurodevelopment, Pten, ASD, mTOR, single gene polymorphism Conference: 14th Meeting of the Asian-Pacific Society for Neurochemistry, Kuala Lumpur, Malaysia, 27 Aug - 30 Aug, 2016. Presentation Type: Symposium 8: Molecular Pathways in Autism Spectrum Disorders Topic: 14th Meeting of the Asian-Pacific Society for Neurochemistry Citation: Howitt J (2016). The PTEN/mTOR pathway in autism spectrum disorders. Conference Abstract: 14th Meeting of the Asian-Pacific Society for Neurochemistry. doi: 10.3389/conf.fncel.2016.36.00033 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 26 Jul 2016; Published Online: 11 Aug 2016. * Correspondence: Dr. Jason Howitt, The University of Melbourne, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia, jason.howitt@florey.edu.au Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Jason Howitt Google Jason Howitt Google Scholar Jason Howitt PubMed Jason Howitt Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.