Absence of upregulated genes associated with protein accumulations in desmin myopathy

Raghavan Raju, Marinos C. Dalakas

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)386-388
Number of pages3
JournalMuscle and Nerve
Volume35
Issue number3
DOIs
Publication statusPublished - Mar 1 2007
Externally publishedYes

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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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