Journal article
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy
Neuromuscular disorders : NMD, Vol.4(2), pp.115-120
1994
DOI: 10.1016/0960-8966(94)90002-7
PMID: 7516752
Abstract
The dystrophin-glycoprotein complex spans the sarcolemma to provide a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in skeletal muscle. In Duchenne muscular dystrophy (DMD), the absence of dystrophin leads to a drastic reduction in all of the dystrophin-associated proteins in the sarcolemma, thus causing the disruption of the dystrophin-glycoprotein complex and the loss of the linkage to the extracellular matrix. This is presumed to lead to sarcolemmal instability which could render muscle fibers susceptible to necrosis. In DMD, a very small percentage of muscle fibers show dystrophin staining along the sarcolemma, presumably due to a second in-frame deletion in the dystrophin gene. However, the functional significance of these rare dystrophin-positive muscle fibers (revertants) in DMD has been unclear. Here we report the co-expression of the dystrophin-associated proteins with dystrophin in revertants of DMD skeletal muscle. Our results suggest that the entire dystrophin-glycoprotein complex is restored in revertants and, thus, the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix is restored in these muscle fibers.
Details
- Title: Subtitle
- Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy
- Creators
- K Matsumura - Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA 52242, U.S.AF.M.S Tomé - INSERM U. 153, Paris 75005, FranceH Collin - INSERM U. 153, Paris 75005, FranceF Leturcq - INSERM U. 129, Institut Cochin de Génétique Moleculaire, Paris 75014, FranceM Jeanpierre - INSERM U. 129, Institut Cochin de Génétique Moleculaire, Paris 75014, FranceJ.-C Kaplan - INSERM U. 129, Institut Cochin de Génétique Moleculaire, Paris 75014, FranceM Fardeau - INSERM U. 153, Paris 75005, FranceK.P Campbell - Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA 52242, U.S.A
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.4(2), pp.115-120
- Publisher
- Elsevier B.V
- DOI
- 10.1016/0960-8966(94)90002-7
- PMID
- 7516752
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 1994
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068385202771
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