Autism and epilepsy

A new study has found that distinct sets of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders (ASDs).

According to the research, it all depends on whether the respective mutations boost the protein’s function or sabotage it.

“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,” says co-senior author of the study, Stephan Sanders, MD, PhD, an assistant professor of psychiatry at University of California – San Francisco (UCSF).

“This gives us an opportunity to understand both what these disorders have in common and what makes them different.”

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Genes that drive autism

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.

Matthew W. State, MD, PhD, the Oberndorf Family Distinguished Professor and chair of psychiatry at UCSF, first discovered the link between autism and SCN2A.

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

According to the research, genome sequencing points to SCN2A mutations as strongest known genetic drivers of autism. In addition to its strong association with autism, SCN2A had also previously been implicated in epilepsy.

What does this mean for families affected by autism?

This study represents a first step in understanding how SCN2A mutations lead to autism and developmental delay. The authors hope will both be immediately helpful to the families of patients with these mutations and also lead to better understanding of the mechanisms of ASD more generally.

The researchers say the next step is finding out whether the severity of autism and developmental delay can be predicted by the specific SCN2A mutation a patient has.

Source: University of California – San Francisco via

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