Journal Article

Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy

Laurent Metzinger, Derek J. Blake, Marian V. Squier, Louise V. B. Anderson, Anne E. Deconinck, Ralph Nawrotzki, David Hilton-Jones and Kay E. Davies

in Human Molecular Genetics

Volume 6, issue 7, pages 1185-1191
Published in print July 1997 | ISSN: 0964-6906
Published online July 1997 | e-ISSN: 1460-2083 | DOI:
Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy

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Mutations in the genes encoding dystrophin or dystrophin-associated proteins are responsible for Duchenne muscular dystrophy or various forms of limb-girdle muscular dystrophies respectively. We have recently cloned the gene for the murine 87 kDa postsynaptic protein dystrobrevin, a dystrophin-associated protein. Anti-dystrobrevin antibodies stain the sarcolemma in normal skeletal muscle indicating that dystrobrevin co-localises with dystrophin and the dystrophin-associated protein complex. By contrast, dystrobrevin membrane staining is severely reduced in muscles of Duchenne muscular dystrophy patients, consistent with dystrobrevin being a dystrophin-associated protein. Interestingly, dystrobrevin staining at the sarcolemma is dramatically reduced in patients with limb-girdle muscular dystrophy arising from the loss of one or all of the sarcoglycan components. Normal dystrobrevin staining is observed in patients with other forms of limb-girdle muscular dystrophy where dystrophin and the rest of the dystrophin-associated protein complex are normally expressed and in other neuromuscular disorders. Our results show that dystrobrevin-deficiency is a generic feature of dystrophies linked to dystrophin and the dystrophin-associated proteins. This is the first indication that a cytoplasmic component of the dystrophin-associated protein complex may be involved in the pathogenesis of limb-girdle muscular dystrophy.

Journal Article.  3934 words.  Illustrated.

Subjects: Genetics and Genomics

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