Signal pathways and striated muscles
Striated muscles account for about 40% of total body weight, contain 50-75% of the body’s total protein and contribute significantly to multiple body functions. There are two types of striated muscle: skeletal and cardiac muscles. They share a common architecture characterized by a very particular and well described arrangement of muscle cells and associated connective tissues.
Muscular dystrophies correspond to a family of muscle diseases characterized by weakness and progressive muscle degeneration. At the skeletal muscular level, they manifest themselves by a decrease in muscle strength (muscular dystrophy), and a lack of mobilité́ joints (muscle retractions) that begin in childhood or in young adults. The decrease in muscle strength leads, in a few cases, to a loss of independent walking, making it necessary to use a power wheelchair to get around. These are diseases of genetic origin. There are several forms that differ in the age of onset of symptoms, the nature of the muscles affected and their severity. At the cardiac level, the presence of abnormalities is observed at a more or less advanced age, mainly in the form of dilated cardiomyopathy, which is the main cause of death and makes the severity of these diseases. At present, there is no curative treatment available.
Our group is particularly interested in studying the molecular and cellular mechanisms involved in two muscular dystrophies: Duchenne muscular dystrophy and Emery-Dreifuss muscular dystrophy. It appears important and necessary to increase our knowledge of the pathophysiology of muscular dystrophies and cardiomyopathies in order to unveil the cellular/molecular mechanisms that will allow us to target future therapeutic approaches. We are studying in vitro and in vivo models of these pathologies and developing novel pharmacological therapies based on our discoveries.
Our research is based on 3 axes:
- Tissue organization of striated muscles in health and pathology
- Signalling pathways regulating the links between structure and function in striated muscles
- Control of striated muscle gene expression through signalling pathways
Year of production
- Stéphanie Bauché, Olivia Cattaneo, Damien Sternberg, Céline Buon, Morgane Euchparmakian, et al.. New mutation in the beta 1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome. Myology, Sep 2022, Nice, France. ⟨hal-03994152⟩
- Laura Virtanen, Cécile Peccate, Chiara D’ercole, Vaarany Karunanithy, Cindy Bertholon, et al.. Multimodal Single Cell profiling of Duchenne Muscular Dystrophy. Myology Conference 2022, Sep 2022, Nice, France. ⟨hal-04019783⟩
- Lorenzo Giordani, Chiara D’ercole, Paolo D’angelo, Veronica Ruggieri, Daisy Proietti, et al.. Spatially resolved transcriptomics reveals innervation-responsive functional clusters in skeletal muscle. INTERNATIONAL CONFERENCE ON MUSCLE WASTING - Molecular mechanisms of muscle growth and wasting in health and disease, Sep 2022, Ascona, Switzerland. ⟨hal-04019261⟩
- Lorenzo Giordani, Cecile Peccate, Chiara D’ercole, Vaarany Karunanuthy, Cecile Bertholle, et al.. Multimodal Single Cell profiling of Duchenne Muscular Dystrophy. 12th Japanese-French Workshop - New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France. ⟨hal-04019299⟩
- Mona Bensalah, Laura Muraine, Alexis Boulinguiez, Lorenzo Giordani, Victorine Albert, et al.. Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers. Myology 2022, Sep 2022, Nice, France. ⟨hal-04011420⟩
- Mona Bensalah, Laura Muraine, Alexis Boulinguiez, Lorenzo Giordani, Victorine Albert, et al.. A negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis. 12th French-Japanese workshop, Sep 2022, Giverny, France. ⟨hal-04011411⟩
- Déborah Cardoso. Rôle de la PARylation sur l’apparition des troubles cardiovasculaires dans la progéria de Hutchinson-Gilford. Médecine humaine et pathologie. Sorbonne Université, 2022. Français. ⟨NNT : 2022SORUS020⟩. ⟨tel-03973171⟩
- Deborah Cardoso. Rôle de la PARylation sur l’apparition des troubles cardiovasculaires dans la progéria de Hutchinson-Gilford. Cardiologie et système cardiovasculaire. Sorbonne Universites, UPMC University of Paris 6, 2022. Français. ⟨NNT : ⟩. ⟨tel-03886230⟩
- Antoine Muchir. Impact of Lamin mutations in cardiomyopathies. Conference, Workshop on the nuclear envelope, mechanobiology and rare disease, 2022, Singapore, France. ⟨hal-04000829⟩
- Antoine Muchir. Pathogenesis of lamin A/C cardiomyopathy. Conference, Netherlands Heart Institute, 2022, Online, Netherlands. ⟨hal-04000816⟩