IRSF receives $1 million matching gift Oct 27, 2009
The campaign, announced during Rett Syndrome Awareness Month, also coincides with the 10-year anniversary of the breakthrough discovery of the causative MECP2 gene, which was made by the lab of IRSF-funded researcher and key advisor, Dr. Huda Zoghbi at Baylor College of Medicine. "The last several years have been filled with exciting developments in Rett syndrome research, and major progress has occurred in the biomedical research arena," said Dr. Antony Horton, Chief Scientific Officer of IRSF.... (EurekAlert! -- Business News)
Non-coding RNA Called Evf2 Is Important For Gene Regulation Sep 2, 2009
They also provide a mechanistic explanation of how the Evf2 RNA controls gene expression by showing that Evf2 recruits key transcription factors, including MECP2, a gene mutated in Rett syndrome, to specific sites in DNA. Says Kohtz. "The majority of cellular RNAs are non-coding, and have been thought to be non-functional. It has become clear that ncRNAs play important roles in a variety of cellular processes. By showing that loss of a single ncRNA can affect neuronal development with... (Science Daily)
Scripps Research, UCSD, and University of Oslo team ties genetic variations to brain size Aug 19, 2009
In deciding a first target, the group decided to focus on a gene known as MECP2 because it plays major roles in controlling brain development. Past studies with mice have shown that MECP2 regulates the activity of a wide range of other genes important in brain development ... MECP2 has also been linked to autism. (EurekAlert!)
Common variation in gene linked to structural changes in the brain Aug 18, 2009
"We studied not only the gene itself a gene called MECP2, which is known to have a big effect on brain development but also the regions surrounding the gene, sometimes known as junk DNA," said principle investigator Anders M. Dale, PhD, professor of Neurosciences and Radiology at the University of California, San Diego School of Medicine. "Looking at this 'bigger window' of genetic data, we discovered that common variations in the MECP2 region result in changes to brain structure, even in... (EurekAlert!)
Novel Approach To Treating Rett Syndrome Under Development Mar 4, 2009
3, 2009) A paper published in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 (MeCP2) in glia. MeCP2 is a protein associated with a variety of neurological disorders, including Rett Syndrome, the most physically disabling of the autism spectrum disorders ... The researchers show that MeCP2-deficient astrocytes (a subset of glia) stunt the growth of neighboring neurons. (Science Daily)
Scientists Spot Possible Treatment for Rett Syndrome Feb 12, 2009
Most children with Rett syndrome, an inherited neurological disease, have a non-functioning MeCP2 gene which may prevents nerve cells from maturing and forming the internal network necessary for the body's systems to communicate with itself. Previous studies in mice found that turning on MeCP2 helped the rodents resume normal body movement and lifespan. (U.S. News & World Report)
Autism Consortium members publish in PNAS: Mechanism, treatment for Rett syndrome -- top cause autism girls Feb 10, 2009
Rett Syndrome, a neurodevelopmental disorder mainly affecting girls and also the most common basis of autism in girls, is primarily caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing, i.e. turning off the activity of other genes ... The MECP2 mutation causes the regulatory mechanism to fail, which in turn causes other genes to function abnormally. (EurekAlert!)
