Muscle from patients with mitochondrial myopathies and congenital muscular dystrophies versus normal human muscle

Global gene expression analysis was performed comparing human skeletal muscle samples from patients with various forms of muscular dystrophy and mitochondrial myopathies in order to identify specific gene expression changes associated with collagen VI deficiency (leading to Ullrich´s Congenital Muscular Dystrophy) and depletion of mitochondrial DNA relative to other mitochondrial myopathies We analysed the gene expression profile of skeletal muscle from children suffering from mitochondrial myopathies and various forms of muscular dystrophy relative to skeletal muscle from healthy children using commercially available arrays that represents the complete human genome (Agilent Human SurePrintGE, 8x60K )

本研究开展全基因组基因表达分析，对比不同类型肌营养不良症与线粒体肌病患者的人类骨骼肌样本，旨在识别相较于其他线粒体肌病，与VI型胶原缺乏（可导致乌尔里希先天性肌营养不良症（Ullrich´s Congenital Muscular Dystrophy））及线粒体DNA耗竭相关的特异性基因表达变化。本研究以健康儿童的骨骼肌样本为参照，对罹患线粒体肌病及各类肌营养不良症的儿童的骨骼肌基因表达谱进行分析，所用商业化基因芯片可覆盖完整人类基因组（Agilent Human SurePrintGE, 8x60K）。