Hu Jing, Higuchi Itsuro, Shiraishi Tadafumi, Suehara Masahito, Niiyama Takahito, Horikiri Takashi, Uchida Yuichi, Saito Akiko, Osame Mitsuhiro
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Muscle Nerve. 2002 Nov;26(5):696-701. doi: 10.1002/mus.10250.
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.
乌尔里希氏病是一种先天性肌营养不良症，临床特征为全身肌肉无力、近端关节多处挛缩以及远端关节过度伸展。最近的研究表明，乌尔里希氏病患者的肌肉中缺乏胶原蛋白VI，部分病例是由胶原蛋白VIα2基因（COL6A2）的隐性突变引起的。纤连蛋白是细胞外基质（ECM）的主要成分之一，与包括胶原蛋白在内的多种其他基质分子相关联。纤连蛋白在细胞上的行为由纤连蛋白受体介导，纤连蛋白受体属于整合素家族成员。我们研究了乌尔里希氏病患者纤连蛋白受体和纤连蛋白的表达情况，发现这些患者皮肤和培养的成纤维细胞的细胞外基质中纤连蛋白受体明显减少。这些结果表明，胶原蛋白VI缺乏可能导致纤连蛋白受体减少，并且细胞黏附异常可能参与了乌尔里希氏病的发病机制。
