Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency
Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency
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DOI：
10.1002/mus.20449
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发表时间：
2006-01-01
期刊：
影响因子：
3.4
通讯作者：
Osame, M
中科院分区：
文献类型：
--
作者：
Higashi, K;Higuchi, I;Osame, M
Ullrich病患者有全身性肌无力、近端关节多发性挛缩和远端关节伸展过度。最近，我们发现一个显着减少的纤维连接蛋白受体在皮肤和培养的成纤维细胞的两个患者Ullrich病与胶原VI缺乏，并推测细胞粘附的异常可能参与疾病的发病机制。在这项研究中，我们研究了蛋白多糖和粘附分子在Ullrich病和其他肌肉疾病中的表达。我们发现，减少NG2蛋白聚糖在骨骼肌膜，但不是在皮肤乌尔里希氏病。相比之下，我们发现在Ullrich病的骨骼肌细胞外基质中腱生蛋白C的上调。我们的研究结果表明，蛋白多糖和粘附分子的异常表达可能参与了乌尔里希氏病的营养不良性肌肉变化的发病机制。
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.