Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease

J Biol Chem. 2008 Oct 31;283(44):30289-99. doi: 10.1074/jbc.M805517200. Epub 2008 Aug 20.

Abstract

Mutations in p97/VCP cause the multisystem disease inclusion body myopathy, Paget disease of the bone and frontotemporal dementia (IBMPFD). p97/VCP is a member of the AAA+ (ATPase associated with a variety of activities) protein family and has been implicated in multiple cellular processes. One pathologic feature in IBMPFD is ubiquitinated inclusions, suggesting that mutations in p97/VCP may affect protein degradation. The present study shows that IBMPFD mutant expression increases ubiquitinated proteins and susceptibility to proteasome inhibition. Co-expression of an aggregate prone protein such as expanded polyglutamine in IBMPFD mutant cells results in an increase in aggregated protein that localizes to small inclusions instead of a single perinuclear aggresome. These small inclusions fail to co-localize with autophagic machinery. IBMPFD mutants avidly bind to these small inclusions and may not allow them to traffic to an aggresome. This is rescued by HDAC6, a p97/VCP-binding protein that facilitates the autophagic degradation of protein aggregates. Expression of HDAC6 improves aggresome formation and protects IBMPFD mutant cells from polyglutamine-induced cell death. Our study emphasizes the importance of protein aggregate trafficking to inclusion bodies in degenerative diseases and the therapeutic benefit of inclusion body formation.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenosine Triphosphatases / metabolism
  • Adenosine Triphosphatases / physiology*
  • Animals
  • Autophagy
  • Cell Cycle Proteins / metabolism
  • Cell Cycle Proteins / physiology*
  • Cell Death
  • Cell Line, Tumor
  • Female
  • Humans
  • Inclusion Bodies
  • Mice
  • Models, Biological
  • Mutation
  • Peptides / chemistry
  • Plasmids / metabolism
  • Protein Binding
  • Ubiquitin / chemistry
  • Valosin Containing Protein

Substances

  • Cell Cycle Proteins
  • Peptides
  • Ubiquitin
  • polyglutamine
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein
  • Vcp protein, mouse