A novel drug target has been discovered by the Penn State University Scientists headed by Dr. Gong Cheng for patients who are diagnosed with Rett Syndrome, a severe form of autism spectrum disorder, according to report. The research is published in the online early edition of the journal Proceedings of the National Academy of Sciences on Jan. 4, 2016.
"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," Dr. Gong Chen, the professor of biology at Penn State University 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."
According to the reports of Medical Xpress, the researchers distinguished stem cells grown from the skin cells of patients into nerve cells that could be examined in the laboratory. They discovered that the gene mutations that cause the disease, Rett Syndrome, are the MECP2. And that these gene mutations lacked KCC2, which is an important molecule, that is also significant to brain development and normal nerve cell function.
"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 individuals with Rett Syndrome may lead to a potential new treatment."
WebMD defines Rett Syndrome as a severe brain disorder affecting girls. It is a rare condition with only one in 10,000 to 15,000 girls will develop the syndrome and develops in the first two years of life. The early symptoms of Rett Syndrome are the slowing of head growth, loss of muscle tone, and an inability of using the hands. At the age of 1 to 4 years of age, the language and social skills of the child deteriorate.
