Our work on Rett Syndrome & "MECP2-pathies"
Although the discovery of MeCP2 mutations in more than 90% of Rett syndrome cases was a very important step to understand the molecular basis of the disease, it did not allow to understand its pathophysiology. However, the identification of the MeCP2 gene lead to the creation of an animal model of the disease : transgenic mice with a deletion of the Mecp2 gene (Guy et al., 2001). These animals quite nicely reproduce the natural history and the clinical signs of Rett syndrome. It is an extremely useful tool to address the questions of how this disease occurs and what are the molecular and cellular mechanisms at play.
Our research is developped along the following axis (click on the links for details) :
1- study of catecholamines (dopamine, norepinephrine), in the Mecp2-deficient mice.
2- study of the motor dysfunction in the same strain.
3- design and tests of new treatments for Rett syndrome using the mouse models.
4- since 2008, we contribute to the european structuration of clinical and basic research initiatives for Rett syndrome and diseases caused by Mecp2 dysfunction at the european level.
