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Treatment for Severe Autism Could Be On the Way

The Short of It

A new and potentially effective treatment for those with Rett Syndrome, a severe form of autism, may be on the way, a new study reports.

The Lowdown

There may soon be an effective treatment for people with a severe form of autism called Rett Syndrome, thanks to scientists at Penn State University, who discovered a new drug target.

"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," said Dr. Gong Chen, professor of biology and the Verne M. Willaman Chair in Life Sciences at Penn State. "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."

The researchers differentiated stem cells derived from the skin cells of patients with Rett Syndrome into nerve cells that could be studied in the laboratory. These nerve cells carry a mutation in the gene MECP2, and such gene mutations are believed to be the cause of most cases of Rett Syndrome. The researchers discovered that these nerve cells lacked an important molecule, KCC2, that is critical to normal nerve cell function and brain development.

"KCC2 controls the function of the neurotransmitter GABA at a critical time during early brain development," Chen said. "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 Upshot

The study has been published in the online Early Edition of the journal "Proceedings of the National Academy of Sciences." And it's an important one, considering 1 in 45 children in the U.S. are affected by autism.

"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 in Chen's Lab and the first-listed author of the paper.

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