Toronto researchers find gene that may be responsible for common autism behaviours

Researchers at the Hospital for Sick Children in Toronto have discovered a gene that may be responsible for the behaviours commonly linked to autism. Photo by Veronica Henri/Postmedia

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Researchers at the Hospital for Sick Children in Toronto have discovered a gene may be responsible for the behaviours commonly linked to autism.

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The study published in the May 13 issue of the science journal Nature, looked at genetic data from 9,349 people with autism spectrum disorder (ASD), and 8,332 without the condition.

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The newly pinpointed gene, dubbed PTCHD1-AS, provides “a new entry point to study the biology of ASD, sharpening our understanding of how specific biological pathways relate to key autism traits,” says Dr. Stephen Scherer, senior study author and chief of research at SickKids told the Daily Mail.

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PTCHD1-AS may play a role in impaired social interaction and repetitive behaviours such as self-stimulating, according to the SickKids team. They believe this research could pave the way to therapies that will reduce these impacts.

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Based on the team’s observations of lab mice, they found that disrupting the PTCHD1-AS gene had an impact on what is known as ‘synaptic plasticity,’ the brain’s ability to fine-tune signals responding the part of the brain where repetitive behaviours are regulated.

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This discovery provides a molecular pattern that can be used in future studies examining the biological effect of this gene in the brain, according to Dr. Lisa Bradley, one of the study authors and research associate in The Centre for Applied Genomics at SickKids.

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“Our findings suggest there is a different biology involved with our PTCHD1-AS model (a non-coding gene) compared to other ASD protein-coding models,” Bradley told the Daily Mail.

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This study shows how small DNA changes can affect complex human behaviour, Scherer said. “It’s amazing to me how much of our disposition is genetically ‘hardwired,’ even in the traits that shape how we connect and interact.”

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The team’s next steps will involve looking into the pathways influenced by the PTCHD1-AS gene in an effort to identify targets for future therapies.

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National Post has reached out to Dr, Scherer for further details.

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The impact of autism in Canada is significant, affecting an estimated 1 in 50 children and youth (ages 1–17) and roughly 1 in 50 adults, according to the Public Health Agency of Canada. That translates into increased demand on health care and education, with the need for specific types of support in housing and employment.

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The neurodevelopmental disorder, says PHAC, can include “impairments in speech, non-verbal communication and social interactions combined with restricted and repetitive behaviours, interests or activities.”

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