Monday, June 2, 2008

Retts Syndrome: New MeCP2 Study

I recently came across a new study on Retts Syndrome that looked interesting. This particular study had surprising results (see excerpt below) that transformed previous scientific thinking. Retts Syndrome, which is under the Autism Spectrum Disorder umbrella, is a genetic disorder involving the MeCP2 gene. Retts Syndrome affects girls and is caused by a deficiency of the gene.

Girls born with this disorder develop typically for the first year of life then experience developmental regression. Speech and fine motor skill loss occurs and symptoms like hand flapping, sleeping problems, seizures and moodiness appear. According to an article about the study, girls with Retts also tend to exhibit stunted growth and have smaller brains than their NT counterparts.

Here is an excerpt from the article in Science Daily about the study:

"A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science*, shows that it is an "on" switch for a startlingly large number of genes.

Rett syndrome is caused by a deficiency of the MECP2 gene. It occurs almost exclusively in girls, robbing them of language, cognitive and fine motor skills around the time they are learning to walk. Having extra copies of MECP2 can also cause Rett-like symptoms.

By manipulating the number of copies of the MECP2 gene in mice, the authors of the new study found that it controls thousands of other genes, suppressing some, but activating most. The research was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both part of NIH."


concerned heart said...

Is non-familial Retts carried by mother's who had older father when they were conceived.

Anonymous said...

Fascinating. We thought for sure M had Rhetts since she regressed over time and still does. Since we found out she has an extra chromosome 6p that is usually fatal I am extra interested in these studies. We have yet to find another child or adult with M's exact chromosome disorder.

As I have said before I wish more children and adults with Autism would be genetically tested. I would be very interested to know what would be revealed. Too bad it is very very costly.