Translational Research and Therapeutic Perspectives in Dysferlinopathies - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Molecular Medicine Année : 2011

Translational Research and Therapeutic Perspectives in Dysferlinopathies

Résumé

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD. Symptoms generally appear at the end of childhood and, although disease progression is typically slow, walking impairments eventually result. Dysferlin is a modular type II transmembrane protein for which numerous binding partners have been identified. Although dysferlin function is only partially elucidated, this large protein contains seven calcium sensor C2 domains, shown to play a key role in muscle membrane repair. On the basis of this major function, along with detailed clinical observations, it has been possible to design various therapeutic approaches for dysferlin-deficient patients. Among them, exon-skipping and minigene transfer strategies have been evaluated at the preclinical level and, to date, represent promising approaches for clinical trials. This review aims to summarize the pathophysiology of dysferlinopathies and to evaluate the therapeutic potential for treatments currently under development. 2011 The Feinstein Institute for Medical Research, www.feinsteininstitute.org Online address: http://www.molmed.org doi: 10.2119/molmed.2011.00084
Fichier principal
Vignette du fichier
11_84_Barthelemy.pdf (553.3 Ko) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte
Loading...

Dates et versions

hal-01610029 , version 1 (04-10-2017)

Identifiants

Citer

Florian Barthelemy, Nicolas Wein, Martin Krahn, Nicolas Lévy, Marc Bartoli. Translational Research and Therapeutic Perspectives in Dysferlinopathies. Molecular Medicine, 2011, 17 (9-10), pp.875-882. ⟨10.2119/molmed.2011.00084⟩. ⟨hal-01610029⟩
118 Consultations
87 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More