Our work on Rett Syndrome
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 autonomic dysfunction, description of the cellular and molecular defects present in the animal model.
2- transcriptional profiling of different tissues of the mutant animals using the technology of "DNA microarrays" followed by a validation of the results using real-time PCR and immunohistochemistry.
3- design and tests of new treatments for Rett syndrome using the mouse models.
4- In addition, to gain further informations about these "Rett" mice, we have designed a new research program using in vivo magnetic resonance imaging (MRI) with Dr. Angèle Viola in Prof. Patrick Cozzone's laboratory which is located in the same institute and is one of the best laboratories in that field. This program already generated its first results.
5- In 2008, a research network on Rett syndrome was created and funded by the European Union. This network is called EuroRETT and regroups 10 laboratories in 5 countries.
