Absence of upregulated genes associated with protein accumulations in desmin myopathy

Raghavan Raju; Marinos C. Dalakas

doi:10.1002/mus.20680

Absence of upregulated genes associated with protein accumulations in desmin myopathy

Raghavan Raju, Marinos C. Dalakas

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

In desmin myopathy but not hereditary inclusion-body myopathy (hIBM), there is accumulation of myofibrillar proteins including desmin, myotilin, dystrophin, gelsolin, actin, and CDC kinase. To assess the cause of protein excess, we studied the genes coding the accumulated proteins in desmin myopathy, hIBM, and controls. No differences were found among them. In desmin myopathy, protein accumulation is not due to upregulation of genes triggered by mutant desmin, but rather to posttranslational disassembly of intermediate filaments.

Original language	English (US)
Pages (from-to)	386-388
Number of pages	3
Journal	Muscle and Nerve
Volume	35
Issue number	3
DOIs	https://doi.org/10.1002/mus.20680
State	Published - Mar 2007
Externally published	Yes

Keywords

Desmin myopathy
Inclusion-body myopathy
Microarray
Protein accumulation
Protein-surplus myopathy

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

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10.1002/mus.20680

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abstract = "In desmin myopathy but not hereditary inclusion-body myopathy (hIBM), there is accumulation of myofibrillar proteins including desmin, myotilin, dystrophin, gelsolin, actin, and CDC kinase. To assess the cause of protein excess, we studied the genes coding the accumulated proteins in desmin myopathy, hIBM, and controls. No differences were found among them. In desmin myopathy, protein accumulation is not due to upregulation of genes triggered by mutant desmin, but rather to posttranslational disassembly of intermediate filaments.",

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AB - In desmin myopathy but not hereditary inclusion-body myopathy (hIBM), there is accumulation of myofibrillar proteins including desmin, myotilin, dystrophin, gelsolin, actin, and CDC kinase. To assess the cause of protein excess, we studied the genes coding the accumulated proteins in desmin myopathy, hIBM, and controls. No differences were found among them. In desmin myopathy, protein accumulation is not due to upregulation of genes triggered by mutant desmin, but rather to posttranslational disassembly of intermediate filaments.

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KW - Microarray

KW - Protein accumulation

KW - Protein-surplus myopathy

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Absence of upregulated genes associated with protein accumulations in desmin myopathy

Abstract

Keywords

ASJC Scopus subject areas

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