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
- Daisy Proietti, Lorenzo Giordani, Marco de Bardi, Chiara d'Ercole, Biliana Lozanoska-Ochser, et al.. Activation of skeletal muscle-resident glial cells upon nerve injury. JCI Insight, 2021, ⟨10.1172/jci.insight.143469⟩. ⟨hal-03160815⟩
- Anne-Claire Guenantin, Imen Jebeniani, Julia Leschik, Erwan Watrin, Gisèle Bonne, et al.. Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy. Journal of Clinical Investigation, 2021, 131 (1), ⟨10.1172/JCI136488⟩. ⟨hal-03134235⟩
- Haikel Dridi, Wei Wu, Steven Reiken, Rachel Ofer, Yang Liu, et al.. Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation. Human Molecular Genetics, 2020, 29 (24), pp.3919-3934. ⟨10.1093/hmg/ddaa278⟩. ⟨hal-03859366⟩
- Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, et al.. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩. ⟨hal-02942760⟩
- Inès Barthélémy, Nadège Calmels, Robert B Weiss, Laurent Tiret, Adeline Vulin, et al.. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skeletal Muscle, 2020, 10 (1), pp.23. ⟨10.1186/s13395-020-00239-0⟩. ⟨hal-02934725⟩
- Déborah Cardoso, Antoine Muchir. Need for NAD+: Focus on Striated Muscle Laminopathies. Cells, 2020, 9 (10), pp.2248. ⟨10.3390/cells9102248⟩. ⟨hal-03011497⟩
- Maria Chatzifrangkeskou, Delf Kah, Janina Lange, Wolfgang Goldmann, Antoine Muchir. Mutated lamin A modulates stiffness in muscle cells. Biochemical and Biophysical Research Communications, 2020, 529 (3), pp.861-867. ⟨10.1016/j.bbrc.2020.05.102⟩. ⟨hal-03859289⟩
- Blanca Morales Rodriguez, Alejandro Domínguez-Rodríguez, Jean-Pierre Benitah, Florence Lefebvre, Thibaut Marais, et al.. Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy. Biochemistry and Biophysics Reports, 2020, 22, pp.100767. ⟨10.1016/j.bbrep.2020.100767⟩. ⟨hal-03269952⟩
- Nicolas Vignier, Antoine Muchir. An Omics View of Emery–Dreifuss Muscular Dystrophy. Journal of Personalized Medicine, 2020, 10 (2), pp.50. ⟨10.3390/jpm10020050⟩. ⟨hal-02935268⟩
- Solenn M Guilbert, Déborah Cardoso, Nicolas Lévy, Antoine Muchir, Xavier Nissan. Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing. Methods, 2020, ⟨10.1016/j.ymeth.2020.04.005⟩. ⟨hal-02548462⟩