Journal article
Dysferlin-Deficient Muscular Dystrophy Features Amyloidosis
Annals of neurology, Vol.63(3), pp.323-328
2008
DOI: 10.1002/ana.21309
PMID: 18306167
Abstract
Objective: Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood.
Methods: The gene encoding dysferlin was sequenced in patients with suspected dysferlin-deficient muscular dystrophy. Muscle biopsy specimens were analyzed by histochemistry, immunohistochemistry, and electron microscopy. Antibodies against N-terminal dysferlin-peptides were raised.
Results: We found three families with muscular dystrophy caused by homozygous or compound heterozygous DYSF mutations featuring sarcolemmal and interstitial amyloid deposits. These mutations were all located in the N-terminal region of the protein. Dysferlin was a constituent of the amyloid deposits.
Interpretation: Limb girdle muscular dystrophy type 2B is the first muscular dystrophy associated with amyloidosis. Molecular treatment strategies will necessarily have to consider the presence of amyloidogenesis.
Details
- Title: Subtitle
- Dysferlin-Deficient Muscular Dystrophy Features Amyloidosis
- Creators
- Simone SPULER - Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max-Delbrück Center, Berlin, GermanyMiriam CARL - Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max-Delbrück Center, Berlin, GermanyJoanna ZABOJSZCZA - Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max-Delbrück Center, Berlin, GermanyVolker STRAUB - Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United KingdomKate BUSHBY - Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United KingdomSteven A MOORE - Institute of Neuropathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, IA, United StatesSylvia BÄHRING - Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max-Delbrück Center, Berlin, GermanyKatrin WENZEL - Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max-Delbrück Center, Berlin, GermanyUwe VINKEMEIER - Department of Cell Biology, School of Biomedical Sciences, Nottingham University Medical School, Nottingham, United KingdomChristoph ROCKEN - Department of Pathology, Charité, University Medicine Berlin, Berlin, Germany
- Resource Type
- Journal article
- Publication Details
- Annals of neurology, Vol.63(3), pp.323-328
- Publisher
- Willey-Liss; Hoboken
- DOI
- 10.1002/ana.21309
- PMID
- 18306167
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- Language
- English
- Date published
- 2008
- Academic Unit
- Pathology
- Record Identifier
- 9984047665802771
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