title: Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency.
abstract: Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in skeletal muscle from two patients with Ullrich's disease. In this study, we investigated immunohistochemically the expression of extracellular matrix proteins and various proteins, which are markers for regenerating muscle fibers. Although we have detected the reduction of collagen VI in Ullrich's disease with the two kinds of monoclonal antibodies for the different domains of collagen VI, the remaining immunoreactive material was different between them. This might suggest the presence of incomplete collagen VI protein in the muscle fibers. Furthermore, we found that very small muscle fibers in the patients with Ullrich's disease showed marked expression of desmin, neural cell adhesion molecule and neonatal myosin heavy chain, which is a characteristic finding of regenerating fibers, however, they showed poor expression of developmental myosin heavy chain and thrombomodulin. The present findings suggest that abnormal regeneration or maturation processes are involved in the pathogenesis of dystrophic muscle changes at least in the advanced stage of Ullrich's disease.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. ihiguchi@m2.kufm.kagoshima-u.ac.jp
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Horikiri
authors.forename: Takahito
authors.initials: T
authors.lastname: Niiyama
authors.forename: Masahito
authors.initials: M
authors.lastname: Suehara
authors.forename: Tadafumi
authors.initials: T
authors.lastname: Shiraishi
authors.forename: Jing
authors.initials: J
authors.lastname: Hu
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Uchida
authors.forename: Akiko
authors.initials: A
authors.lastname: Saito
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Arimura
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D001706:Biopsy; D003095:Collagen Diseases / Q000378:metabolism / Q000473:pathology*; D024142:Collagen Type VI / Q000172:deficiency*; D003893:Desmin / Q000378:metabolism; D003937:Diagnosis, Differential; D016326:Extracellular Matrix Proteins / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D018995:Myosin Heavy Chains / Q000378:metabolism; D019006:Neural Cell Adhesion Molecules / Q000378:metabolism; D018180:Thrombomodulin / Q000378:metabolism
chemical_list: D024142:Collagen Type VI; D003893:Desmin; D016326:Extracellular Matrix Proteins; D019006:Neural Cell Adhesion Molecules; D018180:Thrombomodulin; D018995:Myosin Heavy Chains