Scientists Work On Personalized Approaches For Intellectual Disability

Researchers at The Scripps Research Institute (TSRI) have produced an approach that works to protect animal models against a type of genetic disruption that's responsible for intellectual disability, including serious memory impairments and altered levels of anxiety.

The findings focus on treating the effects of the mutations for the gene known as Syngap1 that have been published online by the journal Biological Psychiatry.

"Our hope is that these studies will eventually lead to a therapy specifically designed for patients with psychiatric disorders caused by damaging Syngap1mutations," said Gavin Rumbaugh, a TSRI associate professor who led the study, in a news release. "Our model shows that the early developmental period is the critical time to treat this type of genetic disorder."

Harming mutations in Syngap1 reduce the number of functional proteins, resulting in one of the most common causes of sporadic intellectual disability that are associated with schizophrenia and autism spectrum disorder (ASD).

In fact, early estimates suggest that these non-inherited genetic mutations may account for 2 to 8 percent of intellectual disability cases. Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that tens of thousands of individuals with intellectual disability may carry damaging Syngap1 mutations without knowing it.

During this new study, researchers examined the effect of damaging Snygap1 mutations during development and found that the mutations disrupt a critical period of neuronal growth--a period between the first and third postnatal weeks in mouse models.

"We found that a certain type of cortical neuron grows too quickly in early development, which then leads to the premature formation of certain types of neural circuits," said Research Associate and first study author Massimilano Aceti.

Findings revealed that a subset of neurons were misconnected in the adultmutant mice, suggesting that early growth of neurons can lead to life-long neural circuit connectivity problems. Then, using advanced genetic techniques to raise Syngap1 protein levels in newborn mutant mice, the researchers found this strategy completely protected the mice only when the approach was started before this critical developmental window opened.

Now researchers are working to develop a drug-screening program to look for drug-like compounds that could help restore levels of Synap1 protein in defective neurons. Their hope in the future is to come up with personalized medicine advances for a therapy that could be tailored for patients based on their genotype.

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