Epilepsy Gene ‘Helps The Brain Form Synapses’
According to a recent US report, a gene that has previously been linked to epilepsy plays an important role in the way the brain develops.
Past studies have observed that mutations to the gene SRPX2 are often found in people with the neurological condition, as well as in individuals with speech and language disorders.
Researchers at the John Hopkins University School of Medicine set out to determine which genes are involved in the formation of the brain’s synapses – the connections between neural tissue that enable us to think.
They screened hundreds of human genes on lab-grown mouse brain cells, finding that higher volumes of SRPX2 caused new synapses to flourish.
In a second experiment, the team injected foetal mice with a chemical compound that blocked the gene. Even by the time they reached adulthood, these subjects showed fewer synapses than their counterparts with normal levels of SRPX2.
Meanwhile, as pups, they didn’t vocalise in the same way that other baby mice did when separated from their mothers, suggesting an SRPX2 deficiency is linked to the rodent equivalent of early language ability.
Another gene implicated in these developmental processes is FoxP2, which the John Hopkins University team researchers went on to confirm controls how much protein SRPX2 makes.
“FoxP2 is famous for its role in language, but it’s actually involved in other functions as well,” commented Richard Huganir, the report’s lead author. “SRPX2 appears to be more specialised to language ability.”
He said that the gene might be involved in autism spectrum disorders as well as speech defects and epilepsy, reflecting that autism patients often have difficulty with language and show similar changes in synaptic formation.
Gek-Ming Sia, a research associate at Dr Huganir’s laboratory, added: “We’d like to find out what other proteins [SRPX2] acts on, and how exactly it regulates synapses and enables language development.”
Their study, which was supported by the US National Institute of Mental health and National Institute of Neurological Disorders and Stroke, appears in last month’s edition of the journal Science Express.