title: Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency.
abstract: Immunocytochemistry of dystrophin, spectrin, vinculin (sarcolemma-specific proteins), and desmin (an intermediate filament protein) were investigated in 5 patients with acid maltase deficiency (AMD). One patient had infant onset, 2 had childhood onset, and 2 had adult onset. All had a vacuolar myopathy with autophagic vacuoles containing glycogen and cytoplasmic degradation products. Dystrophin, spectrin, and vinculin were localized at the sarcolemma as in normal muscle fibers. Within the cytoplasm of many fibers, immunoreactivity for the three proteins was seen as single or multiple spots or as circular structures, which most likely corresponded to the limiting membrane of vacuoles. Desmin was overexpressed at the periphery of some vacuoles. It is plausible that, before exocytosis occurs, sarcolemma-specific proteins appear within the vacuole membrane. Vacuole immunolabeling frequently occurred in the patients with childhood and adult onset AMD, but very rarely occurred in the case with infant onset. We hypothesize that a reduced exocytosis rate might explain the infrequent vacuole immunolabeling and the early onset of the infant form of the disease.
authors.affiliation: Institute of Neurological and Neurosurgical Sciences, University of Messina, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Vita
authors.forename: A
authors.initials: A
authors.lastname: Migliorato
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: C
authors.initials: C
authors.lastname: Messina
mesh_terms: D000328:Adult; D001343:Autophagy; D003598:Cytoskeletal Proteins / Q000378:metabolism*; D016189:Dystrophin / Q000378:metabolism; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism*; D013049:Spectrin / Q000378:metabolism; D014018:Tissue Distribution; D014617:Vacuoles / Q000378:metabolism / Q000502:physiology; D016596:Vinculin / Q000378:metabolism
chemical_list: D003598:Cytoskeletal Proteins; D016189:Dystrophin; D016596:Vinculin; D013049:Spectrin; D005087:Glucan 1,4-alpha-Glucosidase