Skeletal muscle repair in a mouse model of nemaline myopathy.
Skeletal muscle repair in a mouse model of nemaline myopathy.
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线状肌病小鼠模型的骨骼肌修复。
DOI：
10.1093/hmg/ddl186
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发表时间：
2006
影响因子：
3.5
通讯作者：
Beggs,AlanH
中科院分区：
文献类型：
--
作者：
Sanoudou,Despina;Corbett,MarkA;Han,Mei;Ghoddusi,Majid;Nguyen,Mai-AnhT;Vlahovich,Nicole;Hardeman,EdnaC;Beggs,AlanH
线状体肌病（NM）是最常见的非营养不良性先天性肌病，是一种非常严重的神经肌肉疾病，目前尚无有效的治疗方法。虽然已经确定了一些基因突变可以导致NM，导致表型的发病机制知之甚少。为了解决这个问题，我们研究了携带人Met 9Arg突变的α-原肌球蛋白慢（Tpm 3）的NM小鼠模型中的基因表达模式。我们评估了来自受影响小鼠的五种不同骨骼肌，这些骨骼肌代表了具有不同纤维类型组成、不同生理学专业化和不同病理程度的肌肉。尽管未受影响的小鼠的这些相同肌肉在基因表达模式上显示出明显的差异，其中隔膜是最不相似的，但线虫肌肉中突变蛋白的存在导致肌肉之间的基因表达模式更相似。这一结果表明，一个共同的过程或机制，在线虫肌肉独立的变量程度的病理。转录和蛋白质表达数据表明存在的修复过程和可能延迟的成熟线虫肌肉。通过蛋白质印迹分析或免疫组织化学，指示卫星细胞数量、活化卫星细胞和未成熟纤维的标记物（包括M-Cadherin、MyoD、结蛋白、Pax 7和Myf 6）升高。在电子显微镜下观察到杆状肌中有证据表明局灶性修复升高。该分析表明，NM的特点是在多个不同的肌肉中操作的新的修复功能。
Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available. Although a number of genes have been identified in which mutations can cause NM, the pathogenetic mechanisms leading to the phenotypes are poorly understood. To address this question, we examined gene expression patterns in an NM mouse model carrying the human Met9Arg mutation of alpha-tropomyosin slow (Tpm3). We assessed five different skeletal muscles from affected mice, which are representative of muscles with differing fiber-type compositions, different physiological specializations and variable degrees of pathology. Although these same muscles in non-affected mice showed marked variation in patterns of gene expression, with diaphragm being the most dissimilar, the presence of the mutant protein in nemaline muscles resulted in a more similar pattern of gene expression among the muscles. This result suggests a common process or mechanism operating in nemaline muscles independent of the variable degrees of pathology. Transcriptional and protein expression data indicate the presence of a repair process and possibly delayed maturation in nemaline muscles. Markers indicative of satellite cell number, activated satellite cells and immature fibers including M-Cadherin, MyoD, desmin, Pax7 and Myf6 were elevated by western-blot analysis or immunohistochemistry. Evidence suggesting elevated focal repair was observed in nemaline muscle in electron micrographs. This analysis reveals that NM is characterized by a novel repair feature operating in multiple different muscles.
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影响因子：
3.5
作者：
Porter, JD;Khanna, S;Andrade, FH
通讯作者：
Andrade, FH
影响因子：
3.5
作者：
Porter, JD;Merriam, AP;Khanna, S
通讯作者：
Khanna, S
病理前 Dysferlin 缺陷小鼠的近端和远端肌肉群的差异基因表达谱发生改变
影响因子：
2.8
作者：
M. Hagen;S. Laval;Lynsey M Cree;F. Haldane;M. Pocock;I. Wappler;H. Peters;H. Reitsamer;H. Hoger;M. Wiedner;F. Oberndorfer;L. Anderson;V. Straub;R. Bittner;K. Bushby
通讯作者：
K. Bushby
α-原肌球蛋白（慢）突变会影响线状肌病小鼠模型的肌肉力量、成熟和肥大。
影响因子：
3.5
作者：
M. Corbett;Stephen Robinson;G. Dunglison;N. Yang;J. Joya;Angus W. Stewart.;C. Schnell;P. Gunning;K. North;E. Hardeman
通讯作者：
E. Hardeman
影响因子：
5.5
作者：
Rouger, K;Le Cunff, M;Leger, JJ
通讯作者：
Leger, JJ