Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy (original) (raw)

Nature volume 359, pages 320–322 (1992)Cite this article

Abstract

X-LINKED recessive Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, a membrane cytoskeletal protein1,2. Dystrophin is associated with a large oligomeric com-plex of sarcolemmal glycoproteins3–10. The dystrophin–glycoprotein complex has been proposed to span the sarcolemma to provide a link fyetween the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin7,9. In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated proteins4,9,10. We have investigated the possibility that a deficiency of a dystrophin-associated protein could be the cause of severe childhood autosomal recessive mus-cular dystrophy (SCARMD) with a DMD-like phenotype11–14. Here we report the specific deficiency of the 50K dystrophin-associated glycoprotein (Mr 50,000) in sarcolemma of SCARMD patients. Therefore, the loss of this glycoprotein is a common denominator of the pathological process leading to muscle cell necrosis in two forms of muscular dystrophy, DMD and SCARMD.

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Authors and Affiliations

  1. Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, 52242, USA
    Kiichiro Matsumura & Kevin P. Campbell
  2. INSERM 153, 17 rue du Fer-a-Moulin, Paris, 75005, France
    Fernando M. S. Tomé, Huguette Collin & Michel Fardeau
  3. Laboratoire de Biologie, Hopital de Bologhine, Algiers, Algeria
    Kemal Azibi
  4. Service de Neurologic, Hopital de Ben-Aknoun, Algiers, Algeria
    Malika Chaouch
  5. INSERM 129, Institut Cochin de Genetique Moleculaire, 24 rue du Faubourg St Jacques, Paris, 75014, France
    Jean-Claude Kaplan

Authors

  1. Kiichiro Matsumura
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  2. Fernando M. S. Tomé
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  3. Huguette Collin
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  4. Kemal Azibi
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  5. Malika Chaouch
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  6. Jean-Claude Kaplan
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  7. Michel Fardeau
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  8. Kevin P. Campbell
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Matsumura, K., Tomé, F., Collin, H. et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.Nature 359, 320–322 (1992). https://doi.org/10.1038/359320a0

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