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
- 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⟩
- Anne Forand, Antoine Muchir, Nathalie Mougenot, Caroline Sévoz-Couche, Cécile Peccate, et al.. Combined Treatment with Peptide-Conjugated Phosphorodiamidate Morpholino Oligomer-PPMO and AAV-U7 Rescues the Severe DMD Phenotype in Mice. Molecular Therapy - Methods and Clinical Development, 2020, 17, pp.695-708. ⟨10.1016/j.omtm.2020.03.011⟩. ⟨hal-02569939⟩
- Aude Angelini, Mark‐alexander Gorey, Florent Dumont, Nathalie Mougenot, Maria Chatzifrangkeskou, et al.. Cardioprotective effects of α‐cardiac actin on oxidative stress in a dilated cardiomyopathy mouse model. FASEB Journal, In press, 34 (2), pp.2987-3005. ⟨10.1096/fj.201902389R⟩. ⟨hal-02435155⟩
- Kun Wang, Kevin Albert, Gervaise Mosser, Bernard Haye, Aline Percot, et al.. Self-assembly/condensation interplay in nano-to-microfibrillar silicified fibrin hydrogels. International Journal of Biological Macromolecules, 2020, 164, pp.1422-1431. ⟨10.1016/j.ijbiomac.2020.07.220⟩. ⟨hal-02924505⟩
- Antoine Muchir, Howard J Worman. Emery–Dreifuss muscular dystrophy: focal point nuclear envelope. Current Opinion in Neurology, 2019, 32 (5), pp.728 - 734. ⟨10.1097/wco.0000000000000741⟩. ⟨hal-03463390⟩
- Francesco Girardi. TGFbeta signalling pathway in muscle regeneration : an important regulator of muscle cell fusion. Cellular Biology. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS114⟩. ⟨tel-02944744⟩
- Nicolas Vignier, Nathalie Mougenot, Gisèle Bonne, Antoine Muchir. Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy. Biochemistry and Biophysics Reports, 2019, 19, pp.100664. ⟨10.1016/j.bbrep.2019.100664⟩. ⟨hal-03464625⟩