Research

The organization

The team "Muscle and Pathologies" has been created in 2007 by INSERM and University Joseph Fourier – Grenoble, and is part of the "Grenoble Institute of Neuroscience".

 

Affiliation

The Inserm and University Grenoble Alpes affiliation has been renew for the period 2016-2020.

New name

The new name of the team is now Cellular Myology and Pathology (C-MyPath) in the research center U1216.

Involved

The team is actively involved in the Regional Reference Center for Neuromuscular Diseases (Centre de Référence Rhone Alpes des Maladies Neuromusculaires)

Certification

Certified in 2006 by the Ministry of Health, and in close interaction with the Institut NeuroMyoGen (Lyon) and Institut de Myology (Paris).
schema

Explanation

Muscle stimulation at the neuromuscular junction is transformed in a huge intracellular calcium release in a specific part of muscle cell called the triad. This calcium release is performed by a large protein complex, the calcium release complex, specifically localized in the triads. The calcium release complex is organized around the ryanodine receptor (RyR1), the calcium release channel, and triadin. Mutations in RYR1 gene result in a number of rare muscle disease: congenital myopathies (Central Core Disease, Multiminicore Disease), Malignant hyperthermia, Centronuclear Myopathy…. The team "Cellular Myology and Pathologies" gathers basic scientists, geneticists and clinicians, working on muscle pathologies related to defect in muscle calcium release. Part of our work is also dedicated to the alteration of the cardiac calcium release complex, as a similar complex is responsible for calcium releases leading to heart contraction.
 

Three axes of development

Understanding the function of this complex, and its targeting to the triad is necessary for the understanding of the pathophysiological mechanisms and the development of new therapies. To reach this purpose, the following axes are developed in the team:

Intracellular traffic

We study the traffic of triad's proteins, the formation of the calcium release complex and the function of proteins of the calcium release complex in the formation of triads, in interaction with other elements like microtubules.

Pathophysiological mechanisms in myopathies

We identify the pathophysiological mechanisms resulting of mutations in a protein of the calcium release complex, thanks to the development and characterization of cellular or animal models. This allow us to understand the function of proteins involved in the complex, and the pathologies related to their alteration.

Therapeutic development

We are working on the development of treatments to correct the mutations resulting in congenital myopathies, with a focus on RyR1 mutation resulting in Central Core Disease.

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