Dysregulation of core components of SCF complex in poly-glutamine disorders

Cell Death Dis. 2012 Nov 22;3(11):e428. doi: 10.1038/cddis.2012.166.

Abstract

Poly-glutamine (polyQ) diseases are neurodegenerative disorders characterised by expanded CAG repeats in the causative genes whose proteins form inclusion bodies. Various E3 ubiquitin ligases are implicated in neurodegenerative disorders. We report that dysfunction of the SCF (Skp1-Cul1-F-box protein) complex, one of the most well-characterised ubiquitin ligases, is associated with pathology in polyQ diseases like Huntington's disease (HD) and Machado-Joseph disease (MJD). We found that Cullin1 (Cul1) and Skp1, core components of the SCF complex, are reduced in HD mice brain. A reduction in Cul1 levels was also observed in cellular HD model and fly models of both HD and MJD. We show that Cul1 is able to genetically modify mutant huntingtin aggregates because its silencing results in increased aggregate load in cultured cells. Moreover, we demonstrate that silencing dCul1 and dSkp1 in Drosophila results in increased aggregate load and enhanced polyQ-induced toxicity. Our results imply that reduced levels of SCF complex might contribute to polyQ disease pathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cullin Proteins / genetics
  • Cullin Proteins / metabolism
  • Drosophila / genetics
  • Drosophila / metabolism
  • Female
  • Humans
  • Huntington Disease / genetics
  • Huntington Disease / metabolism*
  • Machado-Joseph Disease / genetics
  • Machado-Joseph Disease / metabolism*
  • Male
  • Mice
  • Mice, Transgenic
  • Peptides / metabolism*
  • SKP Cullin F-Box Protein Ligases / genetics
  • SKP Cullin F-Box Protein Ligases / metabolism*

Substances

  • Cullin 1
  • Cullin Proteins
  • Peptides
  • polyglutamine
  • SKP Cullin F-Box Protein Ligases