We could be seeing a treatment for Rett Syndrome, a severe form of autism-spectrum disorders that occurs almost exclusively in girls, any time soon as scientists have discovered a new drug that provides those with the disorder with a critical molecule that their genes lack.
Researchers from Penn State University in the U.S., led by Gong Chen, professor of biology and the Verne M. Willaman Chair in Life Sciences at Penn State, say that the drug also has the potential to treat other forms of autism apart from Rett.
Their study was recently published in 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 Chen in a news release. “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.”
Mutations in the gene MECP2 are believed to be the culprit for most of cases of Rett Syndrome. What the researchers discovered is that this particular gene lacked the molecule KCC2, crucial for nerve cell function and brain development.
Following this lead, they put KKC2 molecules into Rett genes. The result? Previously missing cell functions returned to normal. “We therefore think that increasing KCC2 function in individuals with Rett Syndrome may lead to a potential new treatment,” said Chen.
The drug they used to restore proper KKC2 levels in the cells, which is insulin-like growth factor 1 (IGF1), is subject to an on-going phase-2 clinical trial.
According to a recent survey conducted by the Center for Disease Control and Prevention's National Health Interview Survey in the U.S, 1 in 45 children have Autism Spectrum Disorder; up from 1 in 80 in 2013. Numbers have increased, not because of an epidemic, but due to awareness. Nevertheless, it doesn’t make treatment for the disorder any less vital.
Source: Jan. 4, 2016. "Discovery of a new drug target could lead to novel treatment for severe autism". psu.edu