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. 1996 Jul;13(3):325-35.
doi: 10.1038/ng0796-325.

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

S Reddy  1 , D B Smith, M M Rich, J M Leferovich, P Reilly, B M Davis, K Tran, H Rayburn, R Bronson, D Cros, R J Balice-Gordon, D Housman
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Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

S Reddy et al. Nat Genet. 1996 Jul.

Abstract

Myotonic dystrophy (DM) is an autosomal dominant disorder resulting from the expansion of a CTG repeat in the 3' untranslated region of a putative protein kinase (DMPK). To elucidate the role of DMPK in DM pathogenesis we have developed Dmpk deficient (Dmpk-/-) mice. Dmpk-/-mice develop a late-onset, progressive skeletal myopathy that shares some pathological features with DM. Muscles from mature mice show variation in fibre size, increased fibre degeneration and fibrosis. Adult Dmpk-/-mice show ultrastructural changes in muscle and a 50% decrease in force generation compared to young mice. Our results indicate that DMPK may be necessary for the maintenance of skeletal muscle structure and function and suggest that a decrease in DMPK levels may contribute to DM pathology.

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Comment in

  • Model mice and human disease.
    Wynshaw-Boris A. Wynshaw-Boris A. Nat Genet. 1996 Jul;13(3):259-60. doi: 10.1038/ng0796-259. Nat Genet. 1996. PMID: 8673118 No abstract available.

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