Autism spectrum disorder and brain volume link through a set of mTOR-related genes

Featured ACAMH Papers

Bringing you some selected Open Access journal papers from our portfolio; The Journal of Child Psychology and Psychiatry (JCPP), Child and Adolescent Mental Health journal (CAMH), and JCPP Advances.

Posted on 15 March 2023

Tags: Autism spectrum disorder (ASD), Brain… Show all

Topics: Autism spectrum disorder (ASD), Brain, Genetics
Publication Types: Genetic study

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‘Autism spectrum disorder and brain volume link through a set of mTOR-related genes’

Open Access paper from the JCPP

Background – Larger than average head and brain sizes are often observed in individuals with autism spectrum disorders (ASDs). ASD and brain volume are both highly heritable, with multiple genetic variants contributing. However, it is unclear whether ASD and brain volume share any genetic mechanisms. Genes from the mammalian target of rapamycin (mTOR) pathway influence brain volume, and variants are found in rare genetic syndromes that include ASD features. Here we investigated whether variants in mTOR-related genes are also associated with ASD and if they constitute a genetic link between large brains and ASD.

Authors: Martina Arenella, Nina R. Mota, Mariel W. A. Teunissen, Han G. Brunner, Janita Bralten