Rett Syndrome is caused by a lack of MeCP2 protein. Putting the protein back in mice, reverses symptoms.
In 2007, Adrian Bird’s lab demonstrated that the symptoms of Rett Syndrome could be successfully reversed in mice when protein levels were restored. Putting the protein back in people could be accomplished in a number of ways. Here are two approaches which Reverse Rett is currently supporting:
Activating the silent X
All girls and women have two X chromosomes in every cell, one which is working and one which is silenced or inactivated.
MECP2 is a gene on the X chromosome, which means that girls and women with Rett Syndrome actually have a healthy copy of the MECP2 gene as well as the damaged one which causes Rett Syndrome.
Researchers are looking for ways to switch the healthy gene back on, which in turn, could bring the protein back and reverse symptoms. In the last two years, Reverse Rett has contributed to four labs in their efforts to activate the silent X.
One of these labs is the lab of Ben Philpott at the University of North Carolina who have successfully managed to reactivate a silenced gene in another disorder, Angelman Syndrome