Is There a New Drug for Treating Severe Autism on the Horizon?

By CDC [Public domain], via Wikimedia Commons

Scientists from Penn State University have discovered a drug target and have rescued functional deficits in human nerve cells from individuals with Rett Syndrome. The syndrome is a severe type of autism spectrum disorder (ASD).

The Research Study

The study, led by Gong Chen, a professor at biology at Penn State, could lead to new treatment option for Rett Syndrome and other types of ASD. A paper describing the research was published on January 4th, 2016 in the online Early Edition of the journal, Proceedings of the National Academy of Sciences.

Dr. Chen states, “The most exciting part of this research is that it directly uses human neurons that originated from Rett Syndrome patients as a clinically-relevant disease model to investigate the underlying mechanism. Therefore, the new drug target discovered in this study might have direct clinical implications in the treatment of Rett Syndrome and potentially for other autism-spectrum disorders as well.”

The team differentiated stem cells that came from the skin of people with Rett Syndrome into nerve cells which might be studied in the lab. The nerve cells carry mutations in the gene MECP2 and it is thought this mutation is responsible for causing most cases of Rett Syndrome. Researchers discovered these cells lack a molecule called KCC2, which is important to normal nerve cell functioning, and development of the brain.

Dr. Chen stated, “KCC2 controls the function of the neurotransmitter GABA at a critical time during early brain development. Interestingly, when we put KCC2 back into Rett neurons, the GABA function returns to normal. We therefore think that increasing KCC2 function in individuals with Rett Syndrome may lead to a potential new treatment.”
The team also proved treating diseased nerve cells with insulin-like growth factor 1 (IGF1) elevated the level of KCC2 and helped to correct the malfunctioning GABA neurotransmitters.

Graduate student Xin Tang, graduate student in Dr. Chen’s lab and co-author of the study, said, “The finding that IGF1 can rescue the impaired KCC2 level in Rett neurons is important, not only because it provides an explanation for the action of IGF1, but also because it opens the possibility of finding more small molecules that can act on KCC2 to treat Rett syndrome and other autism spectrum disorders.”

Conclusion to the Study

Researchers showed treating diseased nerve cells with insulin-like growth factor 1 raised the level of KCC2 and corrected the function of the GABA neurotransmitter. IGF1 is a molecule that’s been shown to alleviate symptoms in a mouse model of Rett syndrome and is the subject of an ongoing clinical trial for treating the disease in humans.

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