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
- Frédéric Chevessier, Stéphanie Bauché-Godard, Jean-Paul Leroy, Jeanine Koenig, Marion Paturneau-Jouas, et al.. The origin of tubular aggregates in human myopathies. Journal of Pathology, 2005, 207 (3), pp.313-323. ⟨10.1002/path.1832⟩. ⟨hal-03864293⟩
- Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, et al.. Caractérisation physiopathologique des syndromes myasthéniques congénitaux : l'exemple de mutations dans le gène MUSK. Journal de la Société de Biologie, 2005, 199 (1), pp.61-77. ⟨10.1051/jbio:2005008⟩. ⟨hal-03864221⟩
- Agnès Maurel, Kasra Azarnoush, Laurent Sabbah, Nicolas Vignier, Marc Le Lorc'H, et al.. Can Cold or Heat Shock Improve Skeletal Myoblast Engraftment in Infarcted Myocardium?. Transplantation, 2005, 80 (5), pp.660-665. ⟨10.1097/01.tp.0000172178.35488.31⟩. ⟨hal-03824075⟩
- Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, et al.. MUSK, a new target for mutations causing congenital myasthenic syndrome. Human Molecular Genetics, 2004, 13 (24), pp.3229-3240. ⟨10.1093/hmg/ddh333⟩. ⟨hal-03863846⟩
- B Mowry, P Holmans, A Pulver, P Gejman, B Riley, et al.. Multicenter linkage study of schizophrenia loci on chromosome 22q. Molecular Psychiatry, 2004, 9 (8), pp.784-795. ⟨10.1038/sj.mp.4001481⟩. ⟨hal-03863802⟩
- B. Eymard, C. Ioos, A. Barois, B. Estournet, M. Mayer, et al.. Syndromes myasthéniques congénitaux dus à des mutations du gène de la rapsyne. Revue Neurologique, 2004, 160 (5), pp.78-84. ⟨10.1016/s0035-3787(04)71009-7⟩. ⟨hal-03863776⟩
- Sylvie Besse, Valérie Allamand, Jean-Thomas Vilquin, Zhenlin Li, Christophe Poirier, et al.. Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene. Neuromuscular Disorders, 2003, 13 (3), pp.216-222. ⟨10.1016/s0960-8966(02)00278-x⟩. ⟨hal-03824380⟩
- Claudine Laurent, Dana Niehaus, Stéphanie Bauché, Douglas Levinson, Stéphane Soubigou, et al.. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2003, 116B (1), pp.45-50. ⟨10.1002/ajmg.b.10797⟩. ⟨hal-03863965⟩
- Douglas Levinson, Peter Holmans, Claudine Laurent, Brien Riley, Ann Pulver, et al.. No Major Schizophrenia Locus Detected on Chromosome 1q in a Large Multicenter Sample. Science, 2002, 296 (5568), pp.739-741. ⟨10.1126/science.1069914⟩. ⟨hal-03863693⟩
- Nathalie Neyroud, Pascale Richard, Nicolas Vignier, Claire Donger, Isabelle Denjoy, et al.. Genomic Organization of the KCNQ1 K + Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome. Circulation Research, 1999, 84 (3), pp.290-297. ⟨10.1161/01.res.84.3.290⟩. ⟨hal-02330607⟩