Novel model to customise 'intellectual disability' treatment

New York: Scientists have developed a novel approach that can protect against a genetic disorder that causes "intellectual disability", including serious memory impairments and altered anxiety levels.

The findings focus on treating the effects of mutations to a gene known as Syngap1.

"We hope that this will eventually lead to a therapy specifically designed for patients with psychiatric disorders caused by damaging Syngap1 mutations," said Gavin Rumbaugh, associate professor from t he Florida campus of The Scripps Research Institute (TSRI).

"Our model shows that the early developmental period is the critical time to treat this type of genetic disorder," he added.

Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of "intellectual disability" and are associated with schizophrenia and autism spectrum disorder.

Early estimates suggest that these non-inherited genetic mutations account for two to eight percent of these "intellectual disability " cases.

Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that several individuals with "intellectual disability" may carry damaging Syngap1 mutations without knowing it.

Rumbaugh and his colleagues are now developing a drug-screening programme to look for drug-like compounds that could restore levels of Syngap1 protein in defective neurons.

The findings were published online in the journal Biological Psychiatry.