Dystrophin abnormalities in polymyositis and dermatomyositis
| Autor: | Victor Dubowitz, Peter N. Strong, J.Z. Heckmatt, T. Vyse, Caroline Sewry, Angela Clerk |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
musculoskeletal diseases
Adult Male Pathology medicine.medical_specialty Adolescent Blotting Western Polymyositis Skin Diseases Inflammatory myopathy Dystrophin Western blot Muscular Diseases medicine Humans Muscular dystrophy Child Genetics (clinical) Juvenile dermatomyositis Aged medicine.diagnostic_test biology business.industry Muscles Biopsy Needle Infant Dermatomyositis Middle Aged musculoskeletal system medicine.disease Immunohistochemistry Neurology Child Preschool Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) business Immunostaining |
| Zdroj: | Neuromuscular disorders : NMD. 1(5) |
| ISSN: | 0960-8966 |
| Popis: | The expression of dystrophin in muscle biopsies from nine cases of polymyositis, ten cases of juvenile dermatomyositis and three adults with dermatomyositis was studied by Western blot analysis and immunocytochemistry. Five antibodies corresponding to different N- and C-terminal regions of the dystrophin gene were used. Sixteen of the 22 cases (73%) showed an abnormality in the expression of dystrophin on Western blot analysis, either with a reduced molecular weight protein or a reduced amount. Immunostaining was abnormal in 11 out of 19 cases (58%) and showed varying degrees of discontinuity or loss of sarcolemmal staining. Immunolabelling of these areas with antibodies to beta-spectrin was normal implying that the changes were not caused by a loss of the sarcolemma. These results show that secondary changes in the expression of dystrophin can occur in the absence of an abnormality in the corresponding gene and that dystrophin cannot be used in isolation as a diagnostic marker for muscular dystrophy. |
| Databáze: | OpenAIRE |
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