DJ-1 modulates aggregation and pathogenesis in models of Huntington's disease

Hum Mol Genet. 2014 Feb 1;23(3):755-66. doi: 10.1093/hmg/ddt466. Epub 2013 Sep 26.

Abstract

The oxidation-sensitive chaperone protein DJ-1 has been implicated in several human disorders including cancer and neurodegenerative diseases. During neurodegeneration associated with protein misfolding, such as that observed in Alzheimer's disease and Huntington's disease (HD), both oxidative stress and protein chaperones have been shown to modulate disease pathways. Therefore, we set out to investigate whether DJ-1 plays a role in HD. We found that DJ-1 expression and its oxidation state are abnormally increased in the human HD brain, as well as in mouse and cell models of HD. Furthermore, overexpression of DJ-1 conferred protection in vivo against neurodegeneration in yeast and Drosophila. Importantly, the DJ-1 protein directly interacted with an expanded fragment of huntingtin Exon 1 (httEx1) in test tube experiments and in cell models and accelerated polyglutamine aggregation and toxicity in an oxidation-sensitive manner. Our findings clearly establish DJ-1 as a potential therapeutic target for HD and provide the basis for further studies into the role of DJ-1 in protein misfolding diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Astrocytes / metabolism
  • Astrocytes / pathology
  • Brain / metabolism*
  • Brain / pathology
  • Case-Control Studies
  • Disease Models, Animal
  • Drosophila / genetics
  • Humans
  • Huntingtin Protein
  • Huntington Disease / metabolism
  • Huntington Disease / pathology*
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • Mice
  • Mice, Transgenic
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Oncogene Proteins / genetics
  • Oncogene Proteins / metabolism*
  • Oxidation-Reduction
  • Peptides / metabolism
  • Peroxiredoxins
  • Protein Deglycase DJ-1
  • Yeasts / genetics

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins
  • Oncogene Proteins
  • Peptides
  • polyglutamine
  • Peroxiredoxins
  • PARK7 protein, human
  • PARK7 protein, mouse
  • Protein Deglycase DJ-1