Researchers Pinpoint a Specific Gene Behind Autism


Mar 12, 2018


Last year, we reported that scientists had found a genetic ‘hot spot’ associated with autism — a general area of a genome that could influence whether and to what degree someone lands on the spectrum. Now, new research has pinpointed a specific gene linked not only to autism spectrum disorder, but also to many other neurodevelopmental disorders, giving even greater credence to the already widely accepted theory that autism has a genetic cause.

Researchers found alterations of the gene TAOK2 plays a direct role in these disorders. Specifically, alterations called microdeletions — when large missing pieces of genetic material are missing from a person’s genome. Accurately diagnosing a microdeletion and the gene that contains it helps doctors predict patient outcome and to determine if a new treatment is available.

“Our studies reveal that in complex brain disorders that have a loss of many genes, a single deleted gene is sufficient to cause symptoms for the patients,” said Karun Singh, a researcher with McMaster University’s Stem Cell and Cancer Research Institute, and co-author of the study published in the journal Molecular Psychiatry. “This is exciting because it focuses our research effort on the individual gene, saving us time and money, as it will speed up the development of targeted therapeutics to this gene alone.”

While previous research has suggested the involvement of this gene, this is the most comprehensive study supporting it to date. And it is likely there are multiple genetic factors at play that contribute to autism, in addition to microdeletions of TAOK2. Singh said the next step is to develop these treatments and screen potential candidates for clinical trials — easier said than done, and progress on this is likely to be slow. But the research is a large step toward a greater understanding of autism’s root cause, improved therapy and, perhaps, better lives.


Written By The Swaddle Team


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