Understanding the biology of autism
Autism spectrum disorders (ASDs) are debilitating psychiatric disorders that affect 190,000 Canadians. Despite an obvious need, there are no treatments for many disabilities associated with ASDs. Before new therapies can be developed, however, more must be learned about the biology underlying the disease.
To date, more than 20 genetic mutations have been linked to ASDs but the effect of most mutations on cellular function is unknown. Preliminary evidence suggests that some mutations target endocytosis, the process by which cells internalize and destroy molecules. Endocytosis also plays a critical role in structuring synapses—the connections that form circuits in the brain responsible for learning, cognition and behaviour.
Dr. Christopher Brett, Canada Research Chair in Cellular Science and Human Health, is studying the obvious but untested relationship between defects in endocytosis and neurological symptoms associated with ASDs.
Brett aims to understand how autism-linked mutations disrupt events required for endocytosis and how these mutations affect synapses and behaviour in mice.
Brett’s research could lead to the identification of drugs that will overcome effects of these mutations on endocytosis to help treat symptoms associated with autism.