A research team from the Institute of Myology, led by Denis Furling (Myotonic Dystrophy, Physiopathology & Biotherapy Team, Myology Centre for Research), 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. Those works are supported by AFM-Telethon.
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.
Nat Commun. 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067.
