title: Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease.
abstract: By electron microscopy, we examined the skeletal muscle from two patients with Ullrich's disease. One patient had a deletion in the collagen VI alpha 2 gene. The muscle biopsy specimens showed no collagen VI immunoreaction, while the expression of collagen IV was increased. Collagen VI is a microfibrillar protein in the extracellular matrix with cell adhesive properties, and collagen IV is a principal component of the basal lamina. Electron microscopy revealed unevenness, extension, and folding of the muscle plasma membrane, and showed thickening and overproduction of the basal lamina. The data show that type VI collagen is certainly one of the important extracellular matrix components maintaining the structural integrity of skeletal muscle, and a defect of the collagen VI protein causes abnormalities of the muscle plasma membrane, dystrophic muscle changes, and up-regulation of collagen IV.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Sakuragaoka, Japan. takahito@m.kufm.kagoshima-u.ac.jp
authors.forename: Takahito
authors.initials: T
authors.lastname: Niiyama
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.forename: Masahito
authors.initials: M
authors.lastname: Suehara
authors.forename: Teruto
authors.initials: T
authors.lastname: Hashiguchi
authors.forename: Tadafumi
authors.initials: T
authors.lastname: Shiraishi
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Arimura
authors.forename: Ikuro
authors.initials: I
authors.lastname: Maruyama
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D001485:Basement Membrane / Q000473:pathology / Q000648:ultrastructure; D001706:Biopsy; D002462:Cell Membrane / Q000473:pathology / Q000648:ultrastructure; D003095:Collagen Diseases / Q000473:pathology*; D024142:Collagen Type VI / Q000172:deficiency*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology*
chemical_list: D024142:Collagen Type VI