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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
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Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

机译：杜氏肌营养不良症（DMD）和正常骨骼肌活检的基因表达比较

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摘要

The primary cause of Duchenne muscular dystrophy (DMD) is a mutation in the dystrophin gene leading to the absence of the corresponding RNA transcript and protein. Absence of dystrophin leads to disruption of the dystrophin-associated protein complex and substantial changes in skeletal muscle pathology. Although the histological pathology of dystrophic tissue has been well documented, the underlying molecular pathways remain poorly understood. To examine the pathogenic pathways and identify new or modifying factors involved in muscular dystrophy, expression microarrays were used to compare individual gene expression profiles of skeletal muscle biopsies from 12 DMD patients and 12 unaffected control patients. Two separate statistical analysis methods were used to interpret the resulting data: t test analysis to determine the statistical significance of differential expression and geometric fold change analysis to determine the extent of differential expression. These analyses identified 105 genes that differ significantly in expression level between unaffected and DMD muscle. Many of the differentially expressed genes reflect changes in histological pathology. For instance, immune response signals and extracellular matrix genes are overexpressed in DMD muscle, an indication of the infiltration of inflammatory cells and connective tissue. Significantly more genes are overexpressed than are underexpressed in dystrophic muscle, with dystrophin underex-pressed, whereas other genes encoding muscle structure and regeneration processes are overexpressed, reflecting the regenerative nature of the disease.
机译：杜氏肌营养不良症（DMD）的主要原因是肌营养不良蛋白基因中的突变，导致缺少相应的RNA转录物和蛋白质。肌营养不良蛋白的缺乏导致肌营养不良蛋白相关蛋白复合物的破坏和骨骼肌病理学的实质性变化。尽管营养不良组织的组织病理学已得到充分文献证明，但潜在的分子途径仍知之甚少。为了检查致病性途径并确定涉及肌肉营养不良的新因素或修饰因素，使用表达微阵列比较了来自12位DMD患者和12位未受影响的对照患者的骨骼肌活检的个体基因表达谱。两种独立的统计分析方法用于解释所得数据：t检验分析确定差异表达的统计显着性和几何倍数变化分析确定差异表达的程度。这些分析确定了105个基因，它们在未受影响的肌肉和DMD肌肉之间的表达水平显着不同。许多差异表达的基因反映了组织病理学的变化。例如，免疫应答信号和细胞外基质基因在DMD肌肉中过表达，这表明炎症细胞和结缔组织浸润。在营养不良的肌肉中，过表达的基因多于未表达的基因，而肌营养不良蛋白则过表达，而其他编码肌肉结构和再生过程的基因则过表达，反映出该疾病的再生特性。

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