Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy
| Autor: | Alan H. Beggs, Chikahiko Eguchi, Louis M. Kunkel, Satoru Ito, Misako Kaido, Tsuneo Ishiguro, Toshifumi Tsukahara, Ikuya Nonaka, Shoichi Ishiura, Kiichi Arahata, Eri Arikawa, Hideo Honda, Hideo Sugita, Satoshi Orimo |
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| Rok vydání: | 1991 |
| Předmět: |
musculoskeletal diseases
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Duchenne muscular dystrophy Immunocytochemistry Molecular Sequence Data Muscular Dystrophies Dystrophin Antibody Specificity Internal medicine Utrophin medicine Humans Amino Acid Sequence Allele Muscular dystrophy Frameshift Mutation biology Models Genetic C-terminus Muscles Skeletal muscle Antibodies Monoclonal Exons musculoskeletal system medicine.disease medicine.anatomical_structure Endocrinology Neurology Genes biology.protein Neurology (clinical) Chromosome Deletion |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0022-510X |
| Popis: | Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children. The DMD gene product, “dystrophin”, is absent from DMD, while those allelic disease, Becker muscular dystrophy (BMD), exhibits dystrophin of abnormal size and/or quantity. But we are still uncertain about the scenario that internally deleted (or duplicated) dystrophin in BMD possess its carboxy (C)-terminal region, and severely truncated dystrophin in DMD does not. Here we use a new monoclonal antibody directed against an peptide in the C-terminal end of the dystrophin molecule to show that the C-terminus is preserved in 30 BMD and 24 control skeletal muscles but not in 21 DMD specimens. This result, taken together with data on deletions of the dystrophin gene, emphasizes both the diagnostic and biological importance of the C-terminal domain which will require for proper function and stability of dystrophin, and substantiates the validity of the reading frame hypothesis for DMD versus BMD deletions on a biochemical level. |
| Databáze: | OpenAIRE |
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