From Medical Xpress:
In this composite image, a human nerve cell derived from a patient with Rett syndrome shows significantly decreased levels of KCC2 compared to a control cell. Credit: Gong Chen lab, Penn State University
Penn State University scientists have 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. The research, led by Gong Chen, professor of biology and the Verne M. Willaman Chair in Life Sciences at Penn State, could lead to a new treatment for Rett Syndrome and other forms of autism-spectrum disorders. A paper describing the research will be published on January 4, 2016 in the online Early Edition of the journal Proceedings of the National Academy of Sciences.
“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. Chen. “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…