MeCP2 Gene and Rett Syndrome
Diagnosed only in girls, Rett syndrome is a debilitating neurologic disorder that manifests around 6 to 18 months. Affected children gradually lose speech and motor skills and eventually become disabled, requiring constant care. Rett syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay.
Rett syndrome is caused by mutations in the gene encoding the Rett syndrome protein, MeCP2, which is located on the X chromosome. Almost all the mutations are spontaneously occurring and most children with Rett syndrome do not have a family history.
Over a hundred separate mutations in the MeCP2 gene have been identified and may account for the wide range and severity of symptoms. Gene testing is available to confirm diagnoses but detect only about 80% of children with classic Rett syndrome. Even if DNA testing does not reveal a MeCP2 mutation, a child may still be diagnosed with Rett syndrome based on solely on clinical criteria.
Mutated versions of the MeCP2 protein seem unable to silence target genes, such as the DLX5 and BDNF genes, which may then lead to Rett syndrome. The MeCP2 protein usually finds genes that need to be silenced via methyl groups attached to the genes themselves as well as a sequence of at least four A-T DNA bases flanking the methyl groups.
“Finding the MeCP2 target genes is a crucial step in understanding what goes awry in Rett syndrome. Unfortunately these genes have been elusive. Dr. [Adrian] Bird’s discovery of the A-T stretch provides a much-needed clue which should aid in their identification,” said Monica Coenraads, Director of Research for Rett Syndrome Research Foundation.
EurekAlert, September 2, 2005
Related Stories
POSTED IN: General Genetics and Health
.gif)
0 opinions for MeCP2 Gene and Rett Syndrome
No one has left a comment yet. You know what this means, right? You could be first!
Have an opinion? Leave a comment: