Team 2- Muscle Organization & Therapy of Dominant Centronuclear Myopathy

Marc Bitoun

Team leader : Marc Bitoun

Strengthening knowledge on fundamental aspects of muscle biology is one central challenge in order to decipher pathomechanisms and identify targets for therapeutic intervention for neuromuscular disorders. This is particularly true for diseases due to mutations in genes encoding proteins with pleiotropic roles.

One archetypal example is illustrated by the Dynamin 2-related centronuclear myopathy (CNM). There is no available treatment and the pathomechanisms are still not fully understood for this disease characterized by abnormal nuclear centralization. The team has a long-lasting interest in the dominant CNM exemplified by identification of the causing gene, characterization of clinical and histopathological phenotypes, development of animal models, characterization of the role of the endocytosis machinery in muscle, identification of several pathomechanisms and development of gene-based therapies. The objectives of the team are: i) to dissect fundamental mechanisms of muscle cells, relevant to primarily understand the dominant CNM, and beyond, numerous other neuromuscular disorders, and ii) to develop experimental therapies for the dominant CNM.

In this context, the following projects are developed:

  • Defining the role of the endocytosis machinery in muscle (S. Vassilopoulos).
  • Investigating the connections between cytoskeletons and nuclear envelope (B. Cadot, more information in https://cadotbruno.com/).
  • Understanding the Mechanobiology in healthy and pathological muscle (C. Coirault).
  • Studying the pathomechanisms and developing therapies for dominant CNM (D. Trochet)
  • Optimizing the AAV-mediated transduction efficacy in pathological muscle (S. Benkhelifa-Ziyyat).
  • Characterizing the histopathological features of congenital myopathies (N. Romero, see also the page dedicated to the morphological unit of the Institute).

 

Team members

Bitoun Marc. DR2 Inserm, team leader
Coirault Catherine. DR2 Inserm
Trochet Delphine. CR Association Institut de Myologie
Benkhelifa-Ziyyat Sofia. CR Association Institut de Myologie
Cadot Bruno. CR Association Institut de Myologie
Vassilopoulos Stéphane. CR1 Inserm
Romero Norma. PH AP-HP
Prudhon Bernard. Technician, Association Institut de Myologie
Swati Dudhal. Post-doctoral Researcher
Moulay Gilles. Post-doctoral Researcher
Lemerle Eline. PhD student, Sorbonne Université
Darrigrand Jean-François. PhD student, Sorbonne Université
Chassagne Julie. PhD student, Sorbonne Université
Saline Jabr. PhD student, Sorbonne Université

Contact

Marc Bitoun
m.bitoun@institut-myologie.org
tel: 0142165718