Autism Researchers Discover Genetic ‘Rosetta Stone’

New findings by UCSF autism researchers could unlock fundamental mysteries about how events early in brain development lead to autism.

The study found that distinct sets of genetic defects in a specific gene, known as SCN2A, can lead either to infantile epilepsy or to autism spectrum disorders (ASDs), depending on how the mutations impact the gene’s function. The study also solidified SCN2A’s status as the single human gene with the strongest evidence for a causal role in driving autism.

“This new work provides crucial clues that could serve as a molecular ‘Rosetta stone’ to illuminate autism pathology.” –Matthew State, MD, PhD

“The genetics of neuropsychiatric disease are 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,” says study co-author Stephan Sanders, PhD, assistant professor of psychiatry at UCSF. “This gives us an opportunity to understand what these disorders have in common and what makes them different.”

The link between autism and the SCN2A gene was first discovered by Matthew State, MD, PhD, who chairs the Department of Psychiatry at UCSF.

“In autism research, understanding why mutations in a single gene can lead not only to ASDs but also to a wide range of other neurodevelopment disorders has emerged as a central question for the field,” says Dr. State, who was not directly involved with the new study. “This new work provides crucial clues that could serve as a molecular ‘Rosetta stone’ to illuminate autism pathology.”

The advent of genome sequencing in recent years has allowed researchers to make significant progress in identifying genetic risk factors for autism.

“In the past four years, we’ve gone from not really knowing how to find autism genes to having a long list of mutations linked to the disorder,” says Dr. Sanders, who led the new study with neurophysiologist Kevin Bender, PhD, an assistant professor of neurology at UCSF.

The next step will involve learning whether the severity of autism and developmental delay can be predicted by a specific SCN2A gene mutation.

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