New Drug Target Found for Autism

Nerve cells from Rett Syndrome patients saw increased levels of an important molecule critical for neurotransmitter functioning after being given IGF1.

A new drug target discovered by researchers at Penn State University could open the door to a novel treatment for the condition.

Gong Chen, PhD, and colleagues were able to rescue functional deficits in human nerve cells derived from patients with a severe form of autism spectrum disorder known as Rett Syndrome. The researchers differentiated nerve cells from Rett patients’ skin cells into nerve cells that could be studied. These cells have a mutation in a gene, MECP2, that is believed to cause Rett’s syndrome.

In the course of their experiments, the researchers found that these nerve cells are missing a molecule, KCC2, that is important for normal nerve cell function and brain development, the researchers reported in the Proceedings of the National Academy of Sciences.

When the diseased cells were given insulin-like growth factor 1 (IGF1), levels of KCC2 were restored, as was the function of the GABA neurotransmitter.

“KCC2 controls the finction of the neurotransmitter GABA at a critical time during early brain development,” Dr Chen said in a statement. “We therefore think that increasing KCC2 function in individuals with Rett Syndrome may lead to a potential new treatment.

He added that the drug target may also potentially be used for other autism spectrum disorders.


Chen G, et al. KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome. PNAS. 2015; doi: 10.1073/pnas.1524013113.