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首页> 外文期刊>Biochemical and Biophysical Research Communications >Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
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Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

机译：来自福山型先天性肌营养不良和层粘连蛋白-α2缺陷型先天性肌营养不良的肌肉的表达谱;先天性肌营养不良是原发性纤维化疾病吗？

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摘要

Fukuyama-type congenital muscular dystrophy (FCMD) and laminin-alpha 2 deficient congenital muscular dystrophy (MDClA) are congenital muscular dystrophies (CMDs) and they both are categorized into the same clinical entity of muscular dystrophy as Duchenne muscular dystrophy (DMD). All three disorders share a common etiologic defect in the dystrophin-glycoprotein complex, which connects muscle structural proteins with the extracellular basement membrane. To investigate the pathophysiology of these CMDs, we generated microarray gene expression profiles of skeletal muscle from patients in various clinical stages. Despite diverse pathological changes, the correlation coefficient of overall gene expression among these samples was considerably high. We performed a multi-dimensional statistical analysis, the Distillation, to extract determinant genes that distinguish CMD muscle from normal controls. Up-regulated genes were primarily extracellular matrix (ECM) components, whereas down-regulated genes included structural components of mature muscle. These observations reflect active interstitial fibrosis with less active regeneration of muscle cell components in the CMDs, characteristics that are clearly distinct from those of DMD. Although the severity of fibrosis varied among the specimens tested, ECM gene expression was consistently high without substantial changes through the clinical course. Further, in situ hybridization showed more prominent ECM gene expression on muscle cells than on interstitial tissue cells, suggesting that ECM components are induced by regeneration process rather than by 'dystrophy.' These data imply that the etiology of FCMD and MDClA differs from that of the chronic phase of classical muscular dystrophy, and the major pathophysiologic change in CMDs might instead result from primary active fibrosis. (c) 2006 Elsevier Inc. All rights reserved.
机译：福山型先天性肌营养不良症（FCMD）和层粘连蛋白-α2缺陷型先天性肌营养不良症（MDClA）是先天性肌营养不良症（CMD），它们都与杜氏肌营养不良症（DMD）归为同一类肌营养不良的临床实体。这三种疾病在肌营养不良蛋白-糖蛋白复合物中都有一个共同的病因缺陷，后者将肌肉结构蛋白与细胞外基底膜相连。为了研究这些CMD的病理生理，我们从各个临床阶段的患者中生成了骨骼肌的微阵列基因表达谱。尽管病理学变化多样，但这些样品中总体基因表达的相关系数仍然很高。我们进行了多维统计分析，即蒸馏，以提取将CMD肌肉与正常对照区分开的决定性基因。上调的基因主要是细胞外基质（ECM）组件，而下调的基因包括成熟肌肉的结构组件。这些观察结果反映了活动性间质纤维化，而CMD中肌肉细胞成分的活动较少，这明显不同于DMD。尽管纤维化的严重程度在所测试的标本中有所不同，但在整个临床过程中，ECM基因的表达始终很高，而没有发生实质性变化。此外，原位杂交在肌肉细胞上比在间质组织细胞上显示出更多的ECM基因表达，这表明ECM成分是由再生过程而非“营养不良”诱导的。这些数据表明，FCMD和MDClA的病因与经典肌营养不良症的慢性期有所不同，而CMD的主要病理生理变化可能由原发性活动性纤维化引起。 （c）2006 Elsevier Inc.保留所有权利。

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