Duchenne Muscular Dystrophy

Marek Michalak, University of Alberta, Edmonton, Alberta, Canada
Michal Opas, University of Toronto, Toronto, Ontario, Canada

Published online: April 2001

DOI: 10.1038/npg.els.0002008

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects muscles and causes progressive weakness. Dystrophin, the product of the DMD gene, is one of several membrane proteins that form the dystrophin–glycoprotein complex, which helps to maintain the integrity of muscle cells; loss of these proteins leads to the wasting of muscle cells and to the pathology of DMD.

Keywords: dystrophin; muscular dystrophies; dystroglycan; sarcoglycan; muscle pathology

Figure 1. Dystrophin–glycoprotein complex (DGC). DGC is composed of dystrophin, dystroglycan (-dystroglycan (156 kDa), -dystroglycan (43 kDa)), sarcoglycans (a 50-kDa -sarcoglycan, a 43-kDa -sarcoglycan, a 35-kDa -sarcoglycan, a 35-kDa -sarcoglycan) and syntrophins (a 54-kDa -syntrophin, a 58-kDa -syntrophin). -Dystroglycan binds the extracellular matrix proteins, laminin and agrin, and may interact with sarcoglycans. The cytoplasmic tail of -dystroglycan binds to the C-terminus of dystrophin and anchors the protein to the DGC. F-actin (actin filaments) is attached to dystrophin at multiple sites: at the N-terminus, in the central rod domain, and at the C-terminus of the protein.
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 Further Reading
    Ahn AH and Kunkel LM (1993) The structural and functional diversity of dystrophin. Nature Genetics 3: 283–291.
    book Boyce FM, Beggs AH and Kunkel LM (1991) "Muscular dystrophy research: what have we learned and where do we go from here?" In: McHugh PR and McKusick VA (eds) Genes, Brain, and Behavior, pp. 121–127. New York: Raven Press
    Campbell KP (1995) Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80: 675–679.
    Fabrizio E, Pons F, Robert A et al. (1994) The dystrophin superfamily: variability and complexity. Journal of Muscle Research and Cell Motility 15: 595–606.
    Karpati G (1997) Utrophin muscles in on the action. Nature Medicine 3: 22–23.
    Ohlendieck K (1996) Towards an understanding of the dystrophin–glycoprotein complex: linkage between the extracellular matrix and the membrane cytoskeleton in nuscle fibres. European Journal of Cell Biology 69: 1–10.
    Tinsley JM, Blake DJ, Zuellig RA and Davies KE (1994) Increasing complexity of the dystrophin-associated protein complex. Proceedings of the National Academy of Sciences of the USA 91: 8307–8313.
    Winder SJ (1997) The membrane–cytoskeleton interface: the role of dystrophin and utrophin. Journal of Muscle Research and Cell Motility 18: 617–629.
    Worton R (1995) Muscular dystrophies: diseases of the dystrophin–glycoprotein complex. Science 270: 755–756.

Related Sub-Topics:

Cell Membranes | Membrane Proteins | Specific Genetic Disorders
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Article Title: Duchenne Muscular Dystrophy
 
How to Cite close
Michalak, Marek, and Opas, Michal(Apr 2001) Duchenne Muscular Dystrophy. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002008]