Journal article
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin
The Journal of clinical investigation, Vol.93(1), pp.99-105
01/1994
DOI: 10.1172/JCI116989
PMCID: PMC293741
PMID: 8282827
Abstract
The absence of dystrophin causes the drastic reduction of the dystrophin-associated proteins (DAPs) in the sarcolemma and the loss of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in Duchenne muscular dystrophy (DMD) skeletal muscle. Here, we report a mild reduction of the DAPs in the unique Becker muscular dystrophy patients with huge deletions in the rod domain of dystrophin and a moderate reduction of the DAPs in patients with huge deletions that involve both the NH2-terminal and rod domains of dystrophin. The phenotype of the latter patients was more severe than that of the former. In both cases, however, the reduction in the DAPs was milder than in typical DMD patients or DMD patients lacking the COOH-terminal domains of dystrophin. Our results suggest that (a) the NH2-terminal and rod domains of dystrophin may not be essential for the interaction with the sarcolemmal glycoprotein complex; and (b) defects in the actin binding activity of dystrophin may cause disruption of the anchorage of the dystrophin-glycoprotein complex to the subsarcolemmal cytoskeleton, which may render muscle fibers susceptible to degeneration.
Details
- Title: Subtitle
- Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin
- Creators
- Kiichiro Matsumura - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Arthur H M Burghes - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Marina Mora - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Fernando M S Tomé - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Lucia Morandi - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Ferdinando Cornello - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242France Leturcq - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Marc Jeanpierre - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Jean-Claude Kaplan - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Philippe Reinert - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242Michel FardeauJerry R MendellKevin P Campbell - University of Iowa, Molecular Physiology and Biophysics
- Resource Type
- Journal article
- Publication Details
- The Journal of clinical investigation, Vol.93(1), pp.99-105
- DOI
- 10.1172/JCI116989
- PMID
- 8282827
- PMCID
- PMC293741
- NLM abbreviation
- J Clin Invest
- ISSN
- 0021-9738
- eISSN
- 1558-8238
- Language
- English
- Date published
- 01/1994
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020740402771
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