Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.
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-assoc...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1997
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| _version_ | 1797051715814424576 |
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| author | Metzinger, L Blake, D Squier, M Anderson, L Deconinck, A Nawrotzki, R Hilton-Jones, D Davies, K |
| author_facet | Metzinger, L Blake, D Squier, M Anderson, L Deconinck, A Nawrotzki, R Hilton-Jones, D Davies, K |
| author_sort | Metzinger, L |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T18:23:25Z |
| format | Journal article |
| id | oxford-uuid:07165ffa-d5eb-4673-af8a-e3b3adf9f970 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:23:25Z |
| publishDate | 1997 |
| record_format | dspace |
| spelling | oxford-uuid:07165ffa-d5eb-4673-af8a-e3b3adf9f9702022-03-26T09:05:54ZDystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:07165ffa-d5eb-4673-af8a-e3b3adf9f970EnglishSymplectic Elements at Oxford1997Metzinger, LBlake, DSquier, MAnderson, LDeconinck, ANawrotzki, RHilton-Jones, DDavies, KMutations 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. |
| spellingShingle | Metzinger, L Blake, D Squier, M Anderson, L Deconinck, A Nawrotzki, R Hilton-Jones, D Davies, K Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. |
| title | Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. |
| title_full | Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. |
| title_fullStr | Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. |
| title_full_unstemmed | Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. |
| title_short | Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. |
| title_sort | dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy |
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