Reference:
2_Dr. S. Russian – Laboratory of Medical Genetics Institute Auxologico Milan
Abstract:
At the laboratories of the Institute of Molecular Genetics Auxologico Italian since 2001 is carried out diagnostics and research on Rett Syndrome. Over the years we have collected a series of 97 patients with a genetic defect known and many without defined molecular cause. In particular, we assessed a fine group of 5 female patients with the mutation 1163del 44 shared by a male with clinical manifestations similar to Rett syndrome. Four of these patients have a milder manifestation of the disease with a reduced capacity for verbal communication, while the fifth has an atypical clinical picture, even more severe. Objectives The research project currently underway is divided into several objectives: We propose to deepen the knowledge of the correlation between the genetic and clinical manifestations of the patient, taking into account not only the type of mutation in the gene MECP2 or CDKL5, but also the possible effect of some alternative forms of proteins, which are related with the main function of the gene, such as BDNF and CDKL5, and could affect some aspects of the disease, for example, the severity and the age of onset of epilepsy. Using an advanced technology that allows us to study the methylation status at a glance and then activation / inactivation of all genes and other regions of the genome, we want to know if the mutation of MeCP2 has an epigenetic effect (ie change the activation ) on some specific genes, if any, and what is the difference between a patient who has a more severe manifestation and the other 4 and compared with the male patient. Any more or less expressed genes in patients with the same mutation and a clinical picture consistent with potential specific targets of MeCP2, which will allow us to better understand the role of the main gene and suggest a ‘hypothesis for future drug therapy.
PROJECT DETAILS
beginning: 2008.
end: 2010.
Country of research: Italy
Counry of funding source: Italy
Funding organization: AIRETT
Financing: PRIVATE FUNDERS – 50 000 €