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Exercise-based interventions in dysferlinopathies

Research Project
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01.02.2018
 - 31.01.2020

Dysferlin is a protein that is involved in different aspects of muscle cell biology, with a prominent role in damageinduced membrane repair. Mutations in the dysferlin gene result in muscular dystrophies collectively referred to as dysferlinopathies. To date, efficient interventions for the prevention and treatment of these pathologies remain elusive. Based on the known functions of dysferlin, exercise‐based interventions could be expected to alleviate many of the symptoms. However, since some specific exercise paradigms have been associated with a detrimental outcome, at least in mouse models for this disease, the adaptations linked to exercise might have to be achieved by alternative means to design safe therapeutic approaches. Our project aims at a better understanding of the function of dysferlin, the mechanisms that underlie the disease pathology and ultimately, the use of genetic and pharmacological interventions that elicit potential beneficial effects. These interventions are centered on the peroxisome proliferator‐activated receptor γ coactivator 1α (PGC‐1α), a key regulatory nexus of endurance exercise adaptation of skeletal muscle. A comprehensive analysis using in silico, in vitro and in vivo techniques will help to identify novel modalities to enhance membrane resealing, improve fiber repair, boost muscle regeneration and eventually enhance muscle function in dysferlinopathies.

Funding

Exercise-based interventions in dysferlinopathies

Foundations / Associations (GrantsTool), 02.2018-01.2020 (24)
PI : Handschin, Christoph.

Members (1)

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Christoph Handschin

Principal Investigator