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Sex-specific genetics of autism
After reviewing a database of gene mutations in children with autism spectrum disorder (ASD), a team of MUSC researchers decided to study a specific gene mutation that likely caused ASD in a girl. They demonstrated that the mutation was damaging to the gene, and that female, but not male, mice lacking a working copy of the gene also showed ASD-associated symptoms. Better understanding the interplay between genetics and sex in ASD could set the stage for developing sex-specific treatments for autism.
The MUSC team was led by Christopher Cowan, Ph.D., the William E. Murray SmartState Endowed Chair in Neuroscience and chair of the Department of Neuroscience, and Ahlem Assali, Ph.D., research assistant professor in the same department. Their findings are published in Nature Neuropsychopharmacology.
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