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Therapeutic development for RyR1-related myopathies using a mouse model?

Objectifs

The purpose of this work is to characterize the effect of a therapeutic chemical (the N acetyl Cysteine) in vivo as well as in vitro in order to offer therapeutic perspectives for congenital myopathies.
 

Résumé

Congenital myopathies are characterized by impairment of skeletal muscles calcium release leading to muscle weakness. An inducible and muscle-specific mouse model of congenital myopathy has been established in our laboratory to better understand the physio-pathology and especially the importance of the Ryanodine receptor-1 (RyR1) in these myopathies. RyR1 is the calcium channel responsible for the release of calcium from the sarcoplasmic reticulum to the cytosol, and so the muscle contraction. Our previous results show that our mouse model presents close similarities with human disease, characterized by loss of muscle strength and weight, and constitutes so a good model to test therapeutic approaches. The purpose of this work is to study ”in vivo” as well as “in vitro” the effect of a therapeutic chemical (the N Acetyl Cysteine) in order to offer therapeutic perspectives for congenital myopathies.
 

Méthodes

In vivo animal experimentation, primary muscle cell culture, immuno-fluorescence, western blot, immunoprecipitation, biochemical assays, functional assay (calcium imaging).
 

Références

  • ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero. Acta Neuropathol Commun. 2019; 7: 3. Published online 2019 Jan 5. doi: 10.1186/s40478-018-0655-5.
  • Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. Cacheux M, Blum A, Sébastien M, Wozny AS, Brocard J, Mamchaoui K, Mouly V, Roux-Buisson N, Rendu J, Monnier N, Krivosic R, Allen P, Lacour A, Lunardi J, Fauré J, Marty I. J Neuromuscul Dis. 2015 Nov 20;2(4):421-432.

Domaines d'expertise requis

Interest in cell biology and in deciphering physio-pathological mechanisms.

Contacts

A. Petiot, CR1 INSERM
Email : anne.petiot@univ-grenoble-alpes.fr
 

Téléchargement(s)

Mise à jour le 26 juin 2020

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