Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease.
Ullrich's disease is a congenital muscular dystrophy characterized clinically by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recent studies have demonstrated that collagen VI is deficient in the muscles of patients with Ullrich's disease, and some cases result from recessive mutations of the collagen VIalpha2 gene (COL6A2). Fibronectin is one of the main components of the extracellular matrix (ECM) and associates with a variety of other matrix molecules including collagen. The behavior of fibronectin on cells is mediated by fibronectin receptors, members of the integrin family. We studied the expression of fibronectin receptors and fibronectin in patients with Ullrich's disease, and found a marked reduction of fibronectin receptors in the ECM of skin and cultured fibroblasts of these patients. These results suggest that collagen VI deficiency may lead to the reduction of fibronectin receptors and that an abnormality of cell adhesion may be involved in the pathogenesis of Ullrich's disease.
Hu
Jing
J
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Higuchi
Itsuro
I
Shiraishi
Tadafumi
T
Suehara
Masahito
M
Niiyama
Takahito
T
Horikiri
Takashi
T
Uchida
Yuichi
Y
Saito
Akiko
A
Osame
Mitsuhiro
M
D002478:Cells, Cultured; D024142:Collagen Type VI / Q000172:deficiency / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D015536:Down-Regulation / Q000235:genetics; D005109:Extracellular Matrix / Q000378:metabolism* / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism* / Q000473:pathology; D005353:Fibronectins / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D017469:Receptors, Fibronectin / Q000172:deficiency* / Q000235:genetics; D012867:Skin / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology
D024142:Collagen Type VI; D005353:Fibronectins; D017469:Receptors, Fibronectin