Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy
| Autor: | C. Cianchetti, Angela Clerk, M. A. Melis, Milena Cau, R. Congiu, Maria Giovanna Marrosu, Anna Mateddu, Antonio Cao, Francesco Muntoni |
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| Jazyk: | angličtina |
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male musculoskeletal diseases Pathology medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent Chromosomes Human Pair 21 Duchenne muscular dystrophy Biopsy Immunocytochemistry Chromosome Disorders In Vitro Techniques Muscular Dystrophies Dystrophin medicine Humans Muscular dystrophy Child Sequence Deletion Genetics Chromosome Aberrations medicine.diagnostic_test biology Muscles Infant Middle Aged medicine.disease Immunohistochemistry Staining Psychiatry and Mental health Child Preschool biology.protein Surgery Female Neurology (clinical) Antibody Research Article |
| Zdroj: | Scopus-Elsevier |
| Popis: | Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity and also gene deletion. In patients with Becker muscular dystrophy (BMD) the anomalies detected ranged from inter- and intra-fibre variation in labelling intensity with the same antibody or several antibodies to general reduction in staining and discontinuous staining. In vitro evidence of abnormal dystrophin breakdown was observed reanalysing the muscle of patients, with BMD and not that of non-Xp21 dystrophies, after it has been stored for several months. A number of patients with DMD showed some staining but this did not represent a diagnostic problem. Based on the data presented, it was concluded that immunocytochemistry is a powerful technique in the prognostic diagnosis of Xp21 muscular dystrophies. |
| Databáze: | OpenAIRE |
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