Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency.
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 marked reduction of fibronectin receptors in the skin and cultured fibroblasts of two patients with Ullrich's disease with collagen VI deficiency, and speculated that an abnormality of cell adhesion may be involved in the pathogenesis of the disease. In this study, we investigated the expression of proteoglycans and adhesion molecules in Ullrich's disease and other muscle diseases. We found a reduction of NG2 proteoglycan in the membrane of skeletal muscle but not in the skin in Ullrich's disease. By contrast, we found the upregulation of tenascin C in the extracellular matrix of skeletal muscle in Ullrich's disease. Our findings suggest that abnormal expression of proteoglycans and adhesion molecules may be involved in the pathogenesis of the dystrophic muscle changes in Ullrich's disease.
Higashi
Keiko
K
Department of Neurology and Geriatrics, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Higuchi
Itsuro
I
Niiyama
Takahito
T
Uchida
Yuichi
Y
Shiraishi
Tadafumi
T
Hashiguchi
Akihiro
A
Saito
Akiko
A
Horikiri
Takashi
T
Suehara
Masahito
M
Arimura
Kimiyoshi
K
Osame
Mitsuhiro
M
D000328:Adult; D000941:Antigens / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D002462:Cell Membrane / Q000737:chemistry; D024142:Collagen Type VI / Q000172:deficiency* / Q000235:genetics; D015536:Down-Regulation; D005109:Extracellular Matrix / Q000737:chemistry / Q000378:metabolism; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D011509:Proteoglycans / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D012867:Skin / Q000737:chemistry / Q000378:metabolism; D013577:Syndrome; D019063:Tenascin / Q000032:analysis / Q000378:metabolism*; D015854:Up-Regulation; D000099216:Chondroitin Sulfate Proteoglycan 4
D000941:Antigens; D024142:Collagen Type VI; D011509:Proteoglycans; D019063:Tenascin; D000099216:Chondroitin Sulfate Proteoglycan 4