With the support of a 2012 NARSAD Young Investigator Grant, researchers at the Whitehead Institute for Biomedical Research in Cambridge, Massachusetts have made new discoveries that redefine the function of a gene linked to an autism spectrum disorder called Rett syndrome. Published in Cell Stem Cell on October 2nd, the findings could lead to the development of new targeted treatments for this disorder.

Rett syndrome affects about one in 10,000 newborn girls. Infants with the illness appear to develop normally for their first six to 18 months, but then their movement and language skills begin to deteriorate. Loss of speech, reduced head size, and breathing and heart rhythm irregularities are common by age four. While certain symptoms may be treated with prescription medications, there is no cure for this illness.

Rett syndrome is caused most often by a mutation in the gene MECP2. It has been thought that MECP2 acts as a global “transcriptional repressor.” Transcription is the first step of gene expression or activation. In this new work, the researchers used stem cell technology to create MECP2-deficient neurons and found that MECP2 actually acts like a global activator (and not a repressor). The findings indicate a vital function for MECP2 in maintaining active gene transcription in human neuronal cells.

“Now we have a much better understanding of the function of MECP2, and the severity of the disease on a cellular level,” said NARSAD Young Investigator Grantee, Yun Li, Ph.D., a postdoctoral researcher in the lab of Rudolf Jaenisch at the Whitehead Institute. “Knowing that human Rett neurons are impaired in both global transcription and translation is important for us to design therapeutic strategies for Rett.”

Read more about this research from The Whitehead Institute press release.

Read the abstract of Dr. Li’s research.