A team of researchers, led by CIFAR Fellow Stephen W. Scherer at the Hospital for Sick Children, has identified a glitch in a gene that may explain why four times more males than females are affected by autism. Their findings were recently published in the American Journal of Human Genetics.
The team analyzed the genes of more than 1600 people with autism and discovered that a defect in the gene SHANK1 may be involved. The SHANK1 gene is part of a family of genes that produces proteins that help form and control neural synapses, or connections between neurons, in the brain. Previous studies have linked other genes in this gene family to autism and intellectual disability.
In their study, the researchers found that six people from four generations of the same family carried a defect in the SHANK1 gene. But only the males carrying the defect had autism, while the females carrying the defect did not. Another autistic male from a different family also had the genetic defect.
“Our genetic discoveries in autism reveal clues of how male and female brains develop differently,” says Dr. Scherer. “To understand our findings, we’ve started to collaborate with CIFAR members in the Genetic Networks and Experience-Based Brain and Biological Development who are providing forays into areas of biology previously unknown to us.”
The team’s findings are significant because they will inform clinical genetic testing in autistic individuals. This research also suggests that there may be something protecting females with this genetic defect from developing autism. This is encouraging news for scientists because discovering what those protective factors are may lead to future preventions or treatments for autism.