New Study Shows Promise for Treatment of Rett Syndrome
New research has found that the genetic mutation of the MeCP2 gene responsible for Rett Syndrome, an autism spectrum disorder, can be reversed pharmacologically in mice. The results of the experiments, conducted at the University of Edinburgh laboratories of Dr. Adrian Bird, were published Feb. 8, 2007, in an advance electronic version of Science magazine.
Rett Syndrome is a neurodevelopmental disorder which deprives children of speech, normal movement and hand use. Many girls affected with Rett Syndrome also show symptoms of autism spectrum disorder early in development, including social and language impairments, as well as regression of behavioral milestones and seizures.
Rett Syndrome is caused by mutations in a gene responsible for the gene product, or protein, methyl-CpG binding protein 2, or MeCP2. MeCP2 binds to “marked” DNA to silence, or turn off, adjacent genes. Subsequently, the silenced genes do not produce their respective proteins. In the case of Rett Syndrome, MeCP2 is non-functional. The MeCP2 target genes that would otherwise be silenced are now expressed, or turned on inappropriately, and may contribute to the clinical features of RTT.
Of interest to autism spectrum disorders, the lab of Dr. Janine LaSalle at UC Davis found mutations in the MeCP2 protein in brain tissue in individuals affected with autism. This suggests that MeCP2 mutations may contribute to autism spectrum disorders.
The recent report by the Bird lab in Scotland demonstrates that using an animal model, mutations in the MeCP2 gene may be reversed, leading to improvements in markers of cell function and behavior. The findings are encouraging to the ability to treat neurodevelopmental disorders with a genetic basis, even in adulthood.
For more on this study, please click here.
Rett Syndrome is a neurodevelopmental disorder which deprives children of speech, normal movement and hand use. Many girls affected with Rett Syndrome also show symptoms of autism spectrum disorder early in development, including social and language impairments, as well as regression of behavioral milestones and seizures.
Rett Syndrome is caused by mutations in a gene responsible for the gene product, or protein, methyl-CpG binding protein 2, or MeCP2. MeCP2 binds to “marked” DNA to silence, or turn off, adjacent genes. Subsequently, the silenced genes do not produce their respective proteins. In the case of Rett Syndrome, MeCP2 is non-functional. The MeCP2 target genes that would otherwise be silenced are now expressed, or turned on inappropriately, and may contribute to the clinical features of RTT.
Of interest to autism spectrum disorders, the lab of Dr. Janine LaSalle at UC Davis found mutations in the MeCP2 protein in brain tissue in individuals affected with autism. This suggests that MeCP2 mutations may contribute to autism spectrum disorders.
The recent report by the Bird lab in Scotland demonstrates that using an animal model, mutations in the MeCP2 gene may be reversed, leading to improvements in markers of cell function and behavior. The findings are encouraging to the ability to treat neurodevelopmental disorders with a genetic basis, even in adulthood.
For more on this study, please click here.
back to top
|
|
|
|
|
|
|
|
||||||
|
|||||||||||||
