Rett syndrome may possibly one day be reversed by 30 genes that could possibly serve as therapeutic targets for the reversal of this rare neurological disorder that only affects females and is a severe form of an autism spectrum disorder, as published in the Proceedings of the National Academy of Sciences.
Currently there are no known cures or treatments specific to Rett syndrome. It is estimated that approximately 15,000 females in the USA and 350,000 worldwide are affected by Rett syndrome. Females born with Rett syndrome are born healthy just like any other infant up until around 1-2 years of age when milestones in development are missed and backsliding occurs.
Rett syndrome is tied to a genetic defect in the MeCP2 gene which is carried on the X chromosome, females carry 2, with one being silenced in every cell. On average most females cells will produce the healthy version of this X linked gene, the mutation in the other half of the cells is enough to trigger the onset and symptoms of the disorder.
This research conducted at Fred Hutchinson Cancer Research Center used adult mouse models to identified a way to partially reactivate the inactive X in the X chromosome that is silenced in every cell, and reactivate the normal copy of the MeCP2 gene.
Even though these findings are in the early stages and therapeutics area long way off, it is a significant start. This approach leads to the reactivation of the entire chromosome. It could possibly be applied to other similar disorders that involve the X chromosome.
