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J Neuromuscul Dis. 2018;5(1):21-28. doi: 10.3233/JND-170251.

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.

Author information

1
Microbiology Immunology and Molecular Genetics, University of California, Los Angeles, CA, USA.
2
Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA, USA.
3
Aix Marseille University, MMG, INSERM, Marseille, France.

Abstract

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in the DYSF gene encoding dysferlin results in the development of several muscle pathologies called dysferlinopathies, where abnormalities of the membrane repair process have been characterized in patients and animal models. Recent efforts have been deployed to decipher the function of dysferlin, they shed light on its direct implication in sarcolemma resealing after injuries. These discoveries served as a strong ground to design therapeutic approaches for dysferlin-deficient patients. This review detailed the different partners and function of dysferlin and positions the sarcolemma repair in normal and pathological conditions.

KEYWORDS:

Muscle; dysferlin; dystrophy; membrane; myopathy

PMID:
29480214
PMCID:
PMC5836414
DOI:
10.3233/JND-170251
[Indexed for MEDLINE]
Free PMC Article

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