Map of high confidence autism associated risk mutant proteins. Blue lines indicate an interaction that is lost or weakened in the mutant protein while red lines indicate gained or strengthened interactions in mutant proteins. (University of California, San Francisco)
In what researchers are hailing as a landmark move, a new study is helping to explain how autism-linked genes rewire the brain potentially opening the door to treatments for the developmental disability.
For the study, scientists mapped proteins encoded by 100 autism risk genes, creating the largest-ever map showing molecular interactions associated with autism. They found that in many cases different genes led to disruptions of the same protein complexes.
The findings published late last week in the journal Science suggest that treatments could target these molecular hubs rather than having to be individualized for specific genetic forms of autism.
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“This current work opens up a whole new world of possibilities for therapeutic targets and promises a generation of novel drugs that can transform what we are able to do in the clinic,” said Dr. Matthew W. State, chair of the Department of Psychiatry and Behavioral Sciences at the University of California, San Francisco and a senior author of the study.
The research could have the biggest impact on those with profound autism who account for about 30% of people on the spectrum and who often have rare genetic mutations, researchers said.
The study ultimately mapped more than 1,800 protein interactions, 87% of which were not previously identified.
“The science demonstrates that autism is written in our genes,” said Nevan J. Krogan, an author of the study and a professor at the University of California, San Francisco. “This study maps the exact molecular machinery that is altered, including the specific protein interactions, down to the interfaces we can target with a drug.”
Not only could the findings alter autism treatment, but the researchers said their approach may offer a blueprint for understanding the genetics of cancer and other conditions.
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