Project Description

Challenge

Mounting evidence has shown that genetics play a role in Autism Spectrum Disorders (ASD). While genetics does not determine that an individual will develop autism, it can increase the risk. Researchers have discovered genes that determine properties of synapses—a junction between two nerve cells that fuses a connection between them—as potentially playing a role in ASD. The goal of this project was to test this hypothesis.

Project Summary

To test this hypothesis, the researchers reduced the expression of target genes to determine what consequence (if any) this had on synapse development. Neuroligin genes are one type of gene that determines the properties of synapses and is associated with ASD in some patients. Another is MDGAs (specifically MDGA1 and MDGA2). These, along with various other genes, were tested throughout the experimental process.

Result

Results showed that MDGAs could disrupt the balance of synapses in the brain and were a potential cause of the development of autism and other neurodevelopment disorders. Ultimately, having this information allows for the development of targeted molecular and pharmaceutical approaches to treat symptoms of ASD.

Team

Investigators

Ann Marie Craig, University of British Columbia
Steven Scherer, Hospital for Sick Children, University of Toronto