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    Lipid Accumulation in Dysferlin-Deficient Muscles

    Access Status
    Fulltext not available
    Authors
    Grounds, M.
    Terrill, J.
    Crabb, Hannah
    Robertson, Terry
    Papadimitriou, J.
    Spuler, S.
    Shavlakadze, T.
    Date
    2014
    Type
    Journal Article
    
    Metadata
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    Citation
    Grounds, M. and Terrill, J. and Crabb, H. and Robertson, T. and Papadimitriou, J. and Spuler, S. and Shavlakadze, T. 2014. Lipid Accumulation in Dysferlin-Deficient Muscles. American Journal of Pathology. 184 (6): pp. 1668-1676.
    Source Title
    American Journal of Pathology
    DOI
    10.1016/j.ajpath.2014.02.005
    ISSN
    0002-9440
    School
    School of Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/13236
    Collection
    • Curtin Research Publications
    Abstract

    Dysferlin is a membrane associated protein involved in vesicle trafficking and fusion. Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/Jdys/ and BLAJ mice, but the pathomechanism of the myopathy is not understood. Oil Red O staining showed many lipid droplets within the psoas and quadriceps muscles of dysferlin-deficient A/Jdys/ mice aged 8 and 12 months, and lipid droplets were also conspicuous within human myofibers from patients with dysferlinopathy (but not other myopathies). Electron microscopy of 8-month-old A/Jdys/ psoas muscles confirmed lipid droplets within myofibers and showed disturbed architecture of myofibers. In addition, the presence of many adipocytes was confirmed, and a possible role for dysferlin in adipocytes is suggested. Increased expression of mRNA for a gene involved in early lipogenesis, CCAAT/enhancer binding protein-δ, in 3-month-old A/Jdys/ quadriceps (before marked histopathology is evident), indicates early induction of lipogenesis/adipogenesis within dysferlin-deficient muscles. Similar results were seen for dysferlin-deficient BLAJ mice. These novel observations of conspicuous intermyofibrillar lipid and progressive adipocyte replacement in dysferlin-deficient muscles present a new focus for investigating the mechanisms that result in the progressive decline of muscle function in dysferlinopathies.

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