Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease
Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease
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DOI：
10.1007/s00401-002-0522-z
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发表时间：
2002-07-01
影响因子：
12.7
通讯作者：
Osame, M
中科院分区：
文献类型：
--
作者：
Niiyama, T;Higuchi, I;Osame, M
在电子显微镜下，我们检查了两名乌尔里希病患者的骨骼肌。1例患者VI型胶原α2基因缺失。肌肉活检标本未见VI型胶原免疫反应，IV型胶原表达增加。VI型胶原是细胞外基质中的一种微纤维蛋白，具有细胞黏附特性，而IV型胶原是基底膜的主要成分。电子显微镜显示肌质膜不均匀、伸展和折叠，基底膜增厚和过度生产。数据表明，VI型胶原是维持骨骼肌结构完整性的重要细胞外基质成分之一，VI型胶原蛋白的缺陷会导致肌肉质膜异常、肌营养不良改变和IV型胶原表达上调。
By electron microscopy, we examined the skeletal muscle from two patients with Ullrich's disease. One patient had a deletion in the collagen VI alpha 2 gene. The muscle biopsy specimens showed no collagen VI immunoreaction, while the expression of collagen IV was increased. Collagen VI is a microfibrillar protein in the extracellular matrix with cell adhesive properties, and collagen IV is a principal component of the basal lamina. Electron microscopy revealed unevenness, extension, and folding of the muscle plasma membrane, and showed thickening and overproduction of the basal lamina. The data show that type VI collagen is certainly one of the important extracellular matrix components maintaining the structural integrity of skeletal muscle, and a defect of the collagen VI protein causes abnormalities of the muscle plasma membrane, dystrophic muscle changes, and upregulation of collagen IV.