Autism researchers discover genetic 'Rosetta Stone'

Science Daily

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Distinct sets of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders (ASDs), depending on whether the respective mutations boost the protein's function or sabotage it, according to a new study by UC San Francisco researchers. Tracing how these particular genetic defects lead to more general changes in brain function could unlock fundamental mysteries about how events early in brain development lead to autism, the authors say.

"The genetics of neuropsychiatric disease is often complicated, but here we have a single gene in which specific mutations can cause either infantile seizures or autism in a consistent and predictable manner," said Stephan Sanders, MD, PhD, an assistant professor of psychiatry at UCSF and member of the UCSF Weill Institute for Neurosciences who is co-senior author of the new study. "This gives us an opportunity to understand both what these disorders have in common and what makes them different."

The findings are a first step towards understanding how different subtle changes in neural function in utero could lead to the development of either a seizure-prone brain or an autistic brain in infancy, the authors say. The study also further implicates the gene responsible for these changes -- called SCN2A -- as the single human gene with the strongest evidence for a causal role in driving ASDs.

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