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Penn State Scientists Discover Potential Autism Treatment

by: Zach Berger

The most recent discovery by Penn State researchers could lead to a groundbreaking advances in the treatment of severe autism.

The university announced on Monday — in conjunction with the publication of a research paper in the Proceedings of the National Academy of Sciences — that Penn State scientists discovered a “novel drug target and have rescued functional deficits in human nerve cells derived from patients with Rett Syndrome, a severe form of autism-spectrum disorder.”

Rett Syndrome is a rare neurological disorder that almost exclusively affects females, leaving sufferers with no verbal skills, seizures, scoliosis, growth failure, and other complications.

Gong Chen, a professor of biology and the Verne M. Willaman Chair in Life Sciences at Penn State, led the research, which could be the starting point for a new treatment of Rett Syndrome.

We have previously covered Chen’s research, including developments in the treatment of Alzheimer’s and brain damage.

Chen, along with his team, was able to study nerve cells of patients with Rett Syndrome, finding a mutation in the MECP2 gene and a specific and important molecule that these nerve cells were lacking. That molecule, KCC2, is vital in normal nerve cell function and brain development, according to the report. He believes that putting that molecule into Rett neurons could return nerve cell function to normal and treat the syndrome.

“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,” Chen said. “Therefore, the new drug target discovered in this study might have direct clinical implication in the treatment of Rett Syndrome and potentially for other autism-spectrum disorders as well.”

But that isn’t all. Chen’s team also found that diseased nerve cells could be treated with insulin-like growth factor 1 — or IGF1. This is a protein hormone that plays an important role in childhood growth and remains important in anabolic processes in adults. The study showed that treating the nerve cells with this protein “elevated the level of KCC2 and correcting the function of the GABA neurotransmitter.” GABA contributes to motor control, vision, and other important functions.

“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,” said Xin Tang, a graduate student working with Chen.

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