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McMaster study gives greater understanding to autism's root cause

A new study out of McMaster University’s Stem Cell and Cancer Research Institute gives a greater understanding of the root causes of autism, researchers say.

The findings were published Tuesday in the journal Cell Reports

Karun Singh is a scientist with the Stem Cell and Cancer Research Institute (SCCRI) and an assistant professor of biochemistry and biomedical sciences at McMaster’s Michael G. DeGroote School of Medicine. (McMaster University)

A new study out of McMaster University's Stem Cell and Cancer Research Institute gives a greater understanding of the root causes of autism, researchers say.

Armed with that information, scientists will be able to begin the process of studying drugs to see if they are able to treat the disorder, said scientist Karun Singh.

"Essentially, we can kind of pinpoint what could be the problem with a specific genetic fingerprint," he said. "You can't solve the problem until you can pinpoint exactly what it is."

The findings, which were published Tuesday in Cell Reports, point to a kind of "on button" on a strand of protein that instructs brain cells to form connections between brain cells during development.

Researchers say they have isolated the genetic changes that keep this particular protein strand "turned off" in some people who have autism.

Singh says that researchers can now start looking for drugs that will correct these synaptic connections.

"This is exciting because such a drug would have the potential to be a new treatment for autism," he said in a statement — though identifying a drug for that treatment is likely years away.

Researchers also caution that mutations of this protein strand account for only a small number of people with autism.

"However, there is strong evidence that many other autism genes disrupt the development of synapses similar to [this protein]; therefore, the key to a new treatment for autism will be to find safe medications that restores brain cell synapse growth and activity."