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Identification of a zebrafish model of muscular dystrophy

Lookup NU author(s): Dr David Bassett


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1. Large-scale mutagenic screens of the zebrafish genome have identified a number of different classes of mutations that disrupt skeletal muscle formation. Of particular interest and relevance to human health is a class of recessive lethal mutations in which muscle differentiation occurs normally, but is followed by tissue-specific degeneration reminiscent of human muscular dystrophies. 2. We have shown that one member of this class of mutations, sapje (sap), results from mutations within the zebrafish orthologue of the human Duchenne muscular dystrophy (DMD) gene. Mutations in this locos cause Duchenne or Becker muscular dystrophies in human patients and are thought to result in a dystrophic pathology by disrupting the link between the actin cytoskeleton and the extracellular matrix in skeletal muscle cells. 3. We have found that the progressive muscle degeneration phenotype of sapje-mutant zebrafish embryos is caused by the failure of somitic muscle attachments at the embryonic myotendinous junction (MTJ). 4. Although a role for dystrophin at the MTJ has been postulated previously and MTJ structural abnormalities have been identified in the dystrophin-deficient mdx mouse model, in vivo evidence of pathology based on muscle attachment failure is thus far lacking. Therefore, the sapjre mutation may provide a model for a novel pathological mechanism of Duchenne muscular dystrophy and other muscle diseases. In the present review, we discuss this finding in light of previously postulated models of dystrophin function.

Publication metadata

Author(s): Bassett D, Currie PD

Publication type: Article

Publication status: Published

Journal: Clinical and Experimental Pharmacology and Physiology

Year: 2004

Volume: 31

Issue: 8

Pages: 537-540

ISSN (print): 0305-1870

ISSN (electronic): 1440-1681

Publisher: Wiley-Blackwell


DOI: 10.1111/j.1440-1681.2004.04030.x

PubMed id: 15298547

Notes: Paper originally presented at the Australian Physiological and Pharmacological Society Symposium Stretch-induced Muscle Damage in Sport and Disease, September 2003


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