AFM-Telethon

Emery Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disease causing skeletal and cardiac muscles dysfunction. Multiple gene mutations have been described in patients, all of them involving some protein connected to the structure or function of the nuclear lamina. The nuclear lamina is important for controlling the DNA three-dimensional structure, a key player in the regulation of genome functionality. To date, despite the identification of genes responsible for EDMD it is difficult to create a clear connection between genotype (specific mutations on the DNA sequence) and the molecular mechanisms underlying the phenotypes (disease symptoms). We will use advanced experimental techniques, including methods that we developed, to understand the role of genetic and epigenetic background in specific tissues affected by EDMD dystrophy. This study will not only improve our basic knowledge of the disease but can lead to the identification of new targets for innovative therapies.