19/4/23 GDF5: A potential treatment for (neuro)-muscular diseases

Il 19 aprile alle 14.00, presso l’Aula 1 del padiglione Monteggia – Ospedale Policlinico di Milano o online al link bit.ly/Seminario-GDF5, si terrà un seminario in lingua inglese dal titolo “GDF5: a potential treatment for (neuro)-muscular diseases”.

A intervenire sarà la Prof.ssa France Pietri-Rouxel, esperta di biologia muscolare e di fisiopatologia della Distrofia Muscolare di Duchenne e direttrice del gruppo di ricerca dell’Istituto di Miologia – Ospedale Pitié Salpêtrière di Parigi.

Durante il workshop verrà approfondito il ruolo del gene GDF5 nella progressione della DMD, con un focus sui vantaggi della sua combinazione con AAV-microdistrofina per migliorare la terapia genica.

Per iscriversi gratuitamente: info@centrodinoferrari.com

GDF5: A potential treatment for (neuro)-muscular diseases

France Pietri-Rouxel, PhD, HDR, DR2 CNRS

Gene therapy for DMD and pathophysiology of skeletal muscle

Centre de recherche en myologie

Sorbonne Université-UMRS974-Inserm-Institut de Myologie

Faculté de Médecine de la Pitié Salpêtrière, Paris

Abstract

Among factors involved in muscle homeostasis, emerging relevance is observed for Growth Differentiation Factor 5 (GDF5) which has been shown to prevent muscle mass loss and force decline during ageing. We demonstrated that GDF5 overexpression induces muscle mass gain and improves neuromuscular connectivity and endplate morphology in a mouse model of Sarcopenia. GDF5 could also be a good candidate for preserving muscle mass in neuromuscular diseases as Duchenne muscular dystrophy (DMD). We investigated the role of GDF5 in DMD progression and showed that its over-expression modulates regeneration process and induces hyperplasia. Of relevance, we investigate the benefits of a combination of GDF5 with AAV-microdystrophin in improving gene therapy by preserving myofibers integrity and increasing muscle mass.

Short biosketch

France Pietri-Rouxel has robust expertise in muscle biology, signal transduction and DMD pathophysiology. Team leader of “Gene Therapy for DMD & Skeletal Muscle Pathophysiology” in the Center of Myology, Faculté de Médecine de la Pitié Salpêtrière, Paris. the team’s main objective aimed at understanding mechanisms involved in dystrophic process and muscle mass homeostasis. She co-conceived the first paper showing the role of CaVβ1E/GDF5 in muscle physiology and has patents in GDF5 use in sarcopenia and neuromuscular diseases (PCT/EP2019/069545EP) and in GDF5 combined treatments in neuromuscular diseases (Patent 19 207561.2).