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    Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

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    Authors
    Lostal, William
    Bartoli, Marc
    Roudaut, Carinne
    Bourg, Nathalie
    Krahn, Martin
    Pryadkina, Marina
    Borel, Perrine
    Suel, Laurence
    Roche, Joseph A.
    Stockholm, Daniel
    Bloch, Robert J.
    Levy, Nicolas
    Bashir, Rumaisa
    Richard, Isabelle
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    Issue Date
    2012-05-29
    URI
    http://hdl.handle.net/10675.2/712
    
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    Abstract
    Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is due to a deficit in membrane repair. Here, we show using two different approaches that fullfiling membrane repair as asseyed by laser wounding assay is not sufficient for alleviating the dysferlin deficient pathology. First, we generated a transgenic mouse overexpressing myoferlin to test the hypothesis that myoferlin, which is homologous to dysferlin, can compensate for the absence of dysferlin. The myoferlin overexpressors show no skeletal muscle abnormalities, and crossing them with a dysferlin-deficient model rescues the membrane fusion defect present in dysferlin-deficient mice in vitro. However, myoferlin overexpression does not correct muscle histology in vivo. Second, we report that AAV-mediated transfer of a minidysferlin, previously shown to correct the membrane repair deficit in vitro, also fails to improve muscle histology. Furthermore, neither myoferlin nor the minidysferlin prevented myofiber degeneration following eccentric exercise. Our data suggest that the pathogenicity of dysferlin deficiency is not solely related to impairment in sarcolemmal repair and highlight the care needed in selecting assays to assess potential therapies for dysferlinopathies.
    Citation
    PLoS One. 2012 May 29; 7(5):e38036
    ae974a485f413a2113503eed53cd6c53
    10.1371/journal.pone.0038036
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    Department of Cellular Biology and Anatomy: Faculty Research and Presentations

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