SYNGAP1 protein boosts cognition and blocks seizures in mice

Boosting levels of a variant of the autism-linked protein SYNGAP1 can improve a mouse’s cognition and protect the animal from seizures, according to a new study. The findings, the team says, could inform treatment options for people with mutations in the SYNGAP1 gene, who often have epilepsy, intellectual disability and autism.

SYNGAP1 codes for a protein that abounds at synapses and is thought to aid in learning and memory. Still, it has been unclear how a single gene can have such an outsized effect on brain development, says lead researcher Gavin Rumbaugh, professor of neuroscience at UF Scripps Biomedical Research in Jupiter, Florida.

One possibility is that SYNGAP1 serves multiple brain functions through a phenomenon called alternative splicing, in which coding segments are pieced together in different patterns to produce several versions of a protein. Loss of the gene would then have compounding effects on brain function, Rumbaugh says, because “you’re not just affecting a linear process; you’re actually affecting many processes.”

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