Autism and the RASopathies
Location(s): United States
The RAS/MAPK pathway is an intracellular signaling pathway that is active in every cell of the body and critical for cell growth and proliferation. Because certain acquired mutations within this pathway can make it overactive, leading to cancer, inhibitors of this pathway have been developed as cancer therapies. People born with a genetic mutation activating this pathway, called a RASopathy, are more susceptible to cancer as well as to neurodevelopmental disabilities, including features of autism spectrum disorders.
Lauren Weiss and her colleagues at the University of California, San Francisco, have collected preliminary data through parent questionnaires and plan to address the following question in their upcoming work: Do autism traits in individuals with RASopathies meet diagnostic criteria for typical autism spectrum disorders?
First, the researchers aim to validate that short parent questionnaires are a reliable measure of clinical autism traits in individuals with RASopathies. If so, then the groundwork would be in place to investigate the relationship between RAS/MAPK signaling and autism. The results of this work could lead to a better understanding of the neurobiology of autism and open the possibility of using existing therapeutics for treating autism spectrum disorders.