Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

@article{Haslett2002GeneEC,
  title={Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle},
  author={J. N. Haslett and D. Sanoudou and A. Kho and R. R. Bennett and S. Greenberg and I. Kohane and A. Beggs and L. Kunkel},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2002},
  volume={99},
  pages={15000 - 15005}
}
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… Expand
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle
TLDR
Comparison of gene expression profiles for skeletal muscle biopsies from DMD patients and unaffected controls suggests that signaling pathways might be substantially involved in the disease process and highlights a large number of unknown genes whose expression is altered and whose identity therefore becomes important in understanding the pathogenesis of muscular dystrophy. Expand
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TLDR
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Dissection of temporal gene expression signatures of affected and spared muscle groups in dystrophin-deficient (mdx) mice.
Although dystrophin mutations are the proximate cause of Duchenne muscular dystrophy (DMD), interactions among heterogeneous downstream mechanisms may be key phenotypic determinants. Temporal geneExpand
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The muscular dystrophies are a group of neuromuscular disorders characterized by progres¬sive muscle weakness and wasting. Although the underlying genetic defects of a large number of muscularExpand
Temporal gene expression profiling of dystrophin-deficient (mdx) mouse diaphragm identifies conserved and muscle group-specific mechanisms in the pathogenesis of muscular dystrophy.
TLDR
The hypothesis that conserved disease mechanisms interacting with baseline differences in muscle group-specific transcriptomes underlie their differential responses to DMD is supported and it is suggested that muscleGroup-specific transcriptional profiles contribute toward the muscle targeting and sparing patterns observed for a variety of metabolic and neuromuscular diseases. Expand
Mutation detection and the use of tissue expression profiling to elucidate the pathogenesis of Duchenne Muscular Dystrophy.
TLDR
A diverse range of disease models have been employed in order to unravel the pathophysiology of DMD and BMD, and it is suggested that the protein has numerous interacting partners involved in the regulatory process with the dystrophin associated glycoprotein complex playing a significant role. Expand
Quantitative proteomic analysis of dystrophic dog muscle.
TLDR
It is indicated that defective energy metabolism is a central hallmark of the disease in the canine model of DMD, and PGC1-α expression is dramatically reduced in GRMD compared to healthy muscle. Expand
Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response.
TLDR
The gene profiling comparisons highlighted upregulation of extracellular matrix proteins involved in innate immunity pathways, proteases that can release them, and downstream receptors and signalling molecules in exercised mdx and DMD, suggesting that the ECM could be a major source of pro-inflammatory molecules that trigger and maintain the immune response in dystrophic muscle. Expand
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR
TLDR
A uniform transcriptional profile of the dystrophic muscle characterized by degeneration and regeneration is defined, with several genes encoding structural proteins appear remarkably highly expressed. Expand
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
TLDR
The immune response in UCMD biopsies is characterised as being mainly mediated via M2 macrophages and the complement pathway indicating that anti-inflammatory treatment may be beneficial to UCMD as for other dystrophies. Expand
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