Reversing Symptoms in Rett Syndrome

Rett Syndrome is a progressive neurological disorder and one of the most common types of mental retardation in females. It is an X-linked genetic mutation (MECP2) with symptoms beginning somewhere between 6 months and 18 months of age. Children appear to develop normally until then. The symptoms closely resemble those of autism spectrum disorders. Children with Rett begin to lose interest in social interaction, they lose verbal skills, motor skills, etc.

A new article in Sciences describes how there does not actually appear to be neuronal death in the syndrome. In their rat model, they were able to reverse the phenotype (fix the expression of the genes) in both immature and mature animals. This means that it was reversible in animals who had _already_ degenerated!

Click here for the abstract to the Science article.
And, here's a Science News article about the research

This is probably a long way off from being modeled in humans, of course, but it would be a wonderful wonderful step. Rett Syndrome is devastating to parents, not to mention to the lives of the children with the mutation.

posted by Sarah @ 8:49 AM