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Lab
Repeat Expansions & Myotonic Dystrophy (REDs)
Institution
CENTRE DE RECHERCHE EN MYOLOGIE
Localisation
paris - France
Date limite
30/06/2025
Contact
Denis Furling

Project Overview
Myotonic Dystrophy Type 1 (DM1) is the most common form of adult muscular dystrophy, caused by the
expansion of CTG repeats in the DMPK gene. This multisystemic disease affects various tissues, with a significant impact on skeletal muscle, leading to myotonia, progressive muscle atrophy, and weakness. Despite advances in understanding the disease, the mechanisms driving progressive muscle wasting in DM1 remain elusive.
Our research has previously identified a reduction in the proliferative capacity of muscle stem cells (MuSCs) in DM1 patients, alongside defective fusion and myogenic differentiation. The current ANR project will use new conditional DM1 mouse models to investigate the specific role of pathogenic RNA carrying expanded CUG repeats in muscle fibers and MuSCs, with the aim of uncovering the molecular and cellular drivers of muscle degeneration. Project funded by ANR