title: Expression of caveolar components in primary desminopathy.
abstract: Myofibrillar myopathies (MFM) involve accumulation of various proteins in the muscle cytoplasm. In myopathy with a heterozygous A337P mutation of the desmin gene, electron-micrographs showed aggregates of vesicular and tubular structures. Positive cytoplasmic reaction for caveolin-3 immunohistochemistry and cholera toxin B binding suggested that caveolae comprised some of the aggregates. As caveolae occur in the Golgi complex and are transported to the cell surface, the results suggest inhibition of their trafficking to the sarcolemma. Alternatively, they could be trapped during internalization. We hypothesize that the accumulation of multiple proteins in MFM could be partially due to inhibited intracellular trafficking.
authors.affiliation: Department of Neurology, Kansai Medical University, 10-15 Fumisono-cho, Moriguchi-city 570-8507, Japan.
authors.forename: Akiyo
authors.initials: A
authors.lastname: Shinde
authors.forename: Satoshi
authors.initials: S
authors.lastname: Nakano
authors.forename: Masashiro
authors.initials: M
authors.lastname: Sugawara
authors.forename: Itaru
authors.initials: I
authors.lastname: Toyoshima
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Ito
authors.forename: Keiko
authors.initials: K
authors.lastname: Tanaka
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kusaka
mesh_terms: D001706:Biopsy; D021941:Caveolae / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D003893:Desmin / Q000235:genetics* / Q000378:metabolism*; D006056:Golgi Apparatus / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D009210:Myofibrils / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D017354:Point Mutation; D021381:Protein Transport / Q000502:physiology; D014617:Vacuoles / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure
chemical_list: D003893:Desmin; D009124:Muscle Proteins