Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects
| Autor: | Renato Mantegazza, Massimo Lanfossi, Valeria Confalonieri, Laura Jarre, P Boffi, Rita Barresi, Nardo Nardocci, Ferdinando Cornelio, Antonella Pini, Frediano Tezzon, Marina Mora, Elena Torchiana, Claudia Di Blasi, Lucia Morandi |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Adolescent Blotting Western Pathology and Forensic Medicine Dystrophin Cellular and Molecular Neuroscience Sarcoglycans Humans Medicine Muscular dystrophy Child Dystroglycans Membrane Glycoproteins biology business.industry Infant Newborn Infant musculoskeletal system medicine.disease Immunohistochemistry Dystrophin-associated protein Cytoskeletal Proteins Sarcoglycan Sarcoglycanopathy Child Preschool biology.protein Female Neurology (clinical) business Limb-girdle muscular dystrophy |
| Zdroj: | Acta Neuropathologica. 94:28-35 |
| ISSN: | 1432-0533 0001-6322 |
| Popis: | We have investigated the expression, using immunohistochemistry, of beta- and gamma-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of alpha-sarcoglycan. alpha-, beta- and gamma-sarcoglycans were absent in 7 patients and variably reduced in 8 patients, in 2 of whom beta-sarcoglycan was more reduced than the alpha- and gamma-proteins. In 5 other patients with variably reduced alpha- and beta-sarcoglycans, gamma-sarcoglycan was completely absent. In all patients the distribution of hyposthenia at disease onset was similar, and predominantly involved pelvic girdle muscles; however, the age at onset and rate of disease progression were highly variable. In severely compromised patients, the onset of disease was before 10 years of age and gamma-sarcoglycan or all three sarcoglycans were absent from muscles. Immunohistochemical analysis of sarcoglycans should be part of routine screening for muscle dystrophies to identify patients with sarcoglycanopathy. Gene analysis is necessary to identify the primary defect; however, sarcoglycan immunohistochemistry may be useful for indicating which gene to investigate. Further biochemical characterization of the interactions between these proteins is required to fully elucidate their roles in causing severe, moderate or mild muscular dystrophy. |
| Databáze: | OpenAIRE |
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