Cited by 1,022Muscle Physiology and DisordersMuscle and Compartmental DisordersCellular transport and secretion

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Defective membrane repair in dysferlin-deficient muscular dystrophy

Bansal, Dimple, Miyake, Katsuya, Vogel, Steven S., Groh, Séverine, Chen, Chien-Chang, Williamson, Roger, McNeil, Paul L., Campbell, Kevin P.·2003·Nature

DOI 10.1038/nature01573

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Abstract

Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi myopathy, but the mechanism that leads to muscle degeneration is unknown. Dysferlin is a homologue of the Caenorhabditis elegans fer-1 gene, which mediates vesicle fusion to the plasma membrane in spermatids. Here we show that dysferlin-null mice maintain a functional dystrophin-glycoprotein complex but nevertheless develop a progressive muscular dystrophy. In normal muscle, membrane patches enriched in dysferlin can be detected in response to sarcolemma injuries. In contrast, there are sub-sarcolemmal accumulations of vesicles in dysferlin-null muscle. Membrane repair assays with a two-photon laser-scanning microscope demonstrated that wild-type muscle fibres efficiently reseal their sarcolemma in the presence of Ca2+. Interestingly, dysferlin-deficient muscle fibres are defective in Ca2+-dependent sarcolemma resealing. Membrane repair is therefore an active process in skeletal muscle fibres, and dysferlin has an essential role in this process. Our findings show that disruption of the muscle membrane repair machinery is responsible for dysferlin-deficient muscle degeneration, and highlight the importance of this basic cellular mechanism of membrane resealing in human disease.

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Authors: Bansal, D., Miyake, K., Vogel, S. S., Groh, S., Chen, C.-C., Williamson, R., McNeil, P. L., & Campbell, K. P.
Affiliations: University of Iowa (US)
Augusta University (US)
National Institutes of Health (US)
Corresponding author: Campbell, Kevin P.
ORCID: Miyake, Katsuya
Vogel, Steven S.
Chen, Chien-Chang
Campbell, Kevin P.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2003-05
Volume: 423
Issue: 6936
Pages: 168-172
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature01573
OpenAlex: W2047136624
Cited by: 1,022
References: 27
Citations by year: 2026: 22 · 2025: 35 · 2024: 47 · 2023: 35 · 2022: 53 · 2021: 42 · 2020: 64 · 2019: 41 · 2018: 36 · 2017: 38 · 2016: 56 · 2015: 55 · 2014: 55 · 2013: 48 · 2012: 51
FWCI: 12.30
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Funders: Howard Hughes Medical Institute
National Aeronautics and Space Administration
Muscular Dystrophy Association
National Institutes of Health
Roy J. and Lucille A. Carver College of Medicine, University of Iowa
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Health Sciences › Medicine › Surgery › Muscle and Compartmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
Keywords: dysferlin, limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, membrane repair, dystrophin-glycoprotein complex, muscle degeneration
MeSH terms: Dysferlin, Animals, Calcium, Cell Membrane, Membrane Fusion, Membrane Proteins, Muscle Proteins, Muscular Dystrophies, Regeneration, Stress, Mechanical, Dystrophin, Gene Deletion, Mice, Knockout, Muscle, Skeletal, Muscle Fibers, Skeletal, Mice

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Defective membrane repair in dysferlin-deficient muscular dystrophy

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