Absence of upregulated genes associated with protein accumulations in desmin myopathy

Raghavan Pillai Raju, Marinos C. Dalakas

Research output: Contribution to journalArticle

5 Citations (Scopus)

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
StatePublished - Mar 1 2007
Externally publishedYes

Fingerprint

Desmin
Muscular Diseases
Genes
Proteins
Gelsolin
Dystrophin
Intermediate Filaments
Centers for Disease Control and Prevention (U.S.)
Up-Regulation

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Absence of upregulated genes associated with protein accumulations in desmin myopathy. / Raju, Raghavan Pillai; Dalakas, Marinos C.

In: Muscle and Nerve, Vol. 35, No. 3, 01.03.2007, p. 386-388.

Research output: Contribution to journalArticle

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