Journal article
Disruption of the β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E
Molecular cell, Vol.5(1), pp.141-151
2000
DOI: 10.1016/S1097-2765(00)80410-4
PMID: 10678176
Abstract
Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caused by mutations in the β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscle. β-sarcoglycan-deficient (
Sgcb-null) mice developed severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. The sarcoglycan–sarcospan and dystroglycan complexes were disrupted in skeletal, cardiac, and smooth muscle membranes. ε-sarcoglycan was also reduced in membrane preparations of striated and smooth muscle. Loss of the sarcoglycan–sarcospan complex in vascular smooth muscle resulted in vascular irregularities in heart, diaphragm, and kidneys. Further biochemical characterization suggested the presence of a distinct ε-sarcoglycan complex in skeletal muscle that was disrupted in
Sgcb-null mice. Thus, perturbation of vascular function together with disruption of the ε-sarcoglycan-containing complex represents a novel mechanism in the pathogenesis of LGMD 2E.
Details
- Title: Subtitle
- Disruption of the β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E
- Creators
- Madeleine Durbeej - Department of Physiology and Biophysics, Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USARonald D Cohn - Department of Physiology and Biophysics, Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USARonald F Hrstka - Department of Obstetrics and Gynecology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USASteven A Moore - Department of Pathology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USAValérie Allamand - Department of Physiology and Biophysics, Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USABeverly L Davidson - Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, Iowa 52242, USARoger A Williamson - Department of Obstetrics and Gynecology, University of Iowa College of Medicine, Iowa City, Iowa 52242, USAKevin P Campbell - Department of Physiology and Biophysics, Department of Neurology, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
- Resource Type
- Journal article
- Publication Details
- Molecular cell, Vol.5(1), pp.141-151
- Publisher
- Elsevier Inc
- DOI
- 10.1016/S1097-2765(00)80410-4
- PMID
- 10678176
- ISSN
- 1097-2765
- eISSN
- 1097-4164
- Language
- English
- Date published
- 2000
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Pathology; Iowa Neuroscience Institute; Obstetrics and Gynecology
- Record Identifier
- 9984047794802771
Metrics
19 Record Views