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Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease
Author(s) -
Hu Jing,
Higuchi Itsuro,
Shiraishi Tadafumi,
Suehara Masahito,
Niiyama Takahito,
Horikiri Takashi,
Uchida Yuichi,
Saito Akiko,
Osame Mitsuhiro
Publication year - 2002
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10250
Subject(s) - fibronectin , extracellular matrix , collagen vi , receptor , pathology , laminin , integrin , pathogenesis , medicine , biology , microbiology and biotechnology , immunology
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 VIα2 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. © 2002 Wiley Periodicals, Inc. Muscle Nerve 26: 696–701, 2002