Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/89883
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Type: Journal article
Title: Skeletal muscle repair in a mouse model of nemaline myopathy
Author: Sanoudou, D.
Corbett, M.A.
Han, M.
Ghoddusi, M.
Nguyen, M.-A.T.
Vlahovich, N.
Hardeman, E.C.
Beggs, A.H.
Citation: Human Molecular Genetics, 2006; 15(17):2603-2612
Publisher: Oxford University Press (OUP)
Issue Date: 2006
ISSN: 0964-6906
1460-2083
Statement of
Responsibility: 
Despina Sanoudou, Mark A. Corbett, Mei Han, Majid Ghoddusi, Mai-Anh T. Nguyen, Nicole Vlahovich, Edna C. Hardeman, and Alan H. Beggs
Abstract: 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.
Keywords: Myofibrils
Muscle, Skeletal
Animals
Mice, Transgenic
Mice
Myopathies, Nemaline
Disease Progression
Microscopy, Electron
Oligonucleotide Array Sequence Analysis
Gene Expression Profiling
Signal Transduction
Rights: © 2006 The Author(s) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
DOI: 10.1093/hmg/ddl186
Appears in Collections:Aurora harvest 7
Paediatrics publications

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