Premium
Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency
Author(s) -
Higashi Keiko,
Higuchi Itsuro,
Niiyama Takahito,
Uchida Yuichi,
Shiraishi Tadafumi,
Hashiguchi Akihiro,
Saito Akiko,
Horikiri Takashi,
Suehara Masahito,
Arimura Kimiyoshi,
Osame Mitsuhiro
Publication year - 2006
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.20449
Subject(s) - pathogenesis , tenascin , extracellular matrix , pathology , fibronectin , proteoglycan , muscle contracture , laminin , medicine , cell adhesion molecule , biology , anatomy , microbiology and biotechnology , immunology
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 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. Muscle Nerve, 2006