Muscular Dystrophy Meets the Gene Chip

Chamberlain, Jeffrey S.

doi:10.1083/jcb.151.6.f43

Cited by 6 publications

(2 citation statements)

References 17 publications

(22 reference statements)

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“…In addition, the strongly up-regulated Act57B is the predominant actin for larval somatic musculature, not adult muscles (54). Expression analysis of muscular dystrophies has also revealed a down-regulation of nuclear encoded mitochondrial genes (26,(55)(56)(57), similar to our observations in Drosophila. As is the case in vertebrate muscular dystrophies, Drosophila hypercontraction mutants exhibit an up-regulation of immune response genes.…”

Section: Volume 281 • Number 12 • March 24 2006supporting

confidence: 76%

“…Known and putative metabolic genes form the majority of down-regulated genes (77 of 118), many of which are known or predicted to function in the mitochondria. A similar response occurs in Duchenne and Limb-girdle muscular dystrophies (55)(56)(57), suggesting a metabolic crisis in myopathic flight muscles similar to muscular dystrophies. The parallels found in Drosophila to human muscle diseases suggest that the cellular responses to genetic lesions that affect muscle function and lead to myopathic states may be conserved.…”

Section: Volume 281 • Number 12 • March 24 2006mentioning

confidence: 79%

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Expression Profiling of a Hypercontraction-induced Myopathy in Drosophila Suggests a Compensatory Cytoskeletal Remodeling Response

Montana

Littleton

2006

Journal of Biological Chemistry

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Mutations that alter muscle contraction lead to a large array of diseases, including muscular dystrophies and cardiomyopathies. Although the molecular lesions underlying many hereditary muscle diseases are known, the downstream pathways that contribute to disease pathogenesis and compensatory muscle remodeling are poorly defined. We have recently identified and characterized mutations in Myosin Heavy Chain (Mhc) that lead to hypercontraction and subsequent degeneration of flight muscles in Drosophila. To characterize the genomic response to hypercontraction-induced myopathy, we performed expression analysis using Affymetrix high density oligonucleotide microarrays in Drosophila Mhc hypercontraction alleles. The altered transcriptional profile of dystrophic Mhc muscles suggests an actin-dependent remodeling of the muscle cytoskeleton. Specifically, a subset of the highly up-regulated transcripts is involved in actin regulation and structural support for the contractile machinery. In addition, we identified previously uncharacterized proteins with putative actin-interaction domains that are up-regulated in Mhc mutants and differentially expressed in muscles. Several of the up-regulated proteins, including the dystrophinrelated protein, MSP-300, and the homolog of the neuronal activityregulated protein, ARC, localize to specific subcellular muscle structures that may provide key structural sites for cytoskeletal remodeling in dystrophic muscles. Defining the genome-wide transcriptional response to muscle hypercontraction in Drosophila has revealed candidate loci that may participate in the pathogenesis of muscular dystrophy and in compensatory muscle repair pathways through modulation of the actin cytoskeleton.

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Section: Volume 281 • Number 12 • March 24 2006supporting

confidence: 76%

Section: Volume 281 • Number 12 • March 24 2006mentioning

confidence: 79%

Expression Profiling of a Hypercontraction-induced Myopathy in Drosophila Suggests a Compensatory Cytoskeletal Remodeling Response

Montana

Littleton

2006

Journal of Biological Chemistry

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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Hagen

Laval

Cree

et al. 2005

Neuromuscular Disorders

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Ultrasound tissue characterization detectspreclinical myocardial structural changes inchildren affected by Duchenne muscular dystrophy

Giglio

Pasceri

Messano

et al. 2003

Journal of the American College of Cardiology

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Our goal was to identify early changes in myocardial physical properties in children with Duchenne muscular dystrophy (DMDch). Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, which triggers complex molecular and biological events in skeletal and cardiac muscle tissues. Although about 30% of patients display overt signs of cardiomyopathy in the late stage of the disease, it is unknown whether changes in myocardial physical properties can be detected in the early (preclinical) stages of the disease. We performed an ultrasonic tissue characterization (UTC) analysis of myocardium in DMDch with normal systolic myocardial function and no signs of cardiomyopathy. Both the cyclic variation of integrated backscatter (cvIBS) and the calibrated integrated backscatter (cIBS) were assessed in 8 myocardial regions of 20 DMDch, age 7 +/- 2 years (range 4 to 10 years), and in 20 age-matched healthy controls. We found large differences in the UTC data between DMDch and controls; the mean value of cvIBS was 4.4 +/- 1.5 dB versus 8.8 +/- 0.8 dB, whereas the mean value of cIBS was 36.4 +/- 7.1 dB versus 26.9 +/- 2.0 dB (p < 10(-6) for both). In DMDch, all eight sampled segments showed cIBS mean values to be significantly higher and cvIBS mean values to be significantly lower than those in the controls. Finally, interindividual differences were greater in DMDch than in controls for both parameters.The myocardium in DMDch displays UTC features different from those in healthy controls. These results show that lack of dystrophin is commonly associated with changes in myocardial features well before the onset of changes of systolic function and overt cardiomyopathy.

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Muscular Dystrophy Meets the Gene Chip

Cited by 6 publications

References 17 publications

Expression Profiling of a Hypercontraction-induced Myopathy in Drosophila Suggests a Compensatory Cytoskeletal Remodeling Response

Expression Profiling of a Hypercontraction-induced Myopathy in Drosophila Suggests a Compensatory Cytoskeletal Remodeling Response

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Ultrasound tissue characterization detectspreclinical myocardial structural changes inchildren affected by Duchenne muscular dystrophy

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