A research team from the Institute of Myology, led by Denis Furling, has taken part in a collaborative work coordinated by Nicolas Charlet (Institute of Genetics and Molecular and Cellular Biology, Strasbourg) and Masanori Takahashi (Osaka, Japan), which enabled to bring to light the key role of alteration (with expanded CTG repeats) of the splicing of SCN5A gene in the apparition of disorders in heart conduction and rate frequently observed on patients with Myotonic Dystrophy. Indeed, heart irregularities affect nearly 80% of patients with myotonic dystrophy and are the second cause of death for this disease.
The results of this study are important to understand the physiopathology of the cardiac damage in this disease, but also open the ways towards new therapeutic approaches as well as new considerations of therapeutic approaches, developed for other heart diseases, as new paths to explore for myotonic dystrophy.
The results for this study have been published on April 11, 2016 in Nature Communications and are available online. Those works are supported by AFM-Telethon.
