Glutamine/proline-rich PQE-1 proteins protect Caenorhabditis elegans neurons from huntingtin polyglutamine neurotoxicity

Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17131-6. doi: 10.1073/pnas.262544899. Epub 2002 Dec 16.

Abstract

Huntington's disease is a progressive neurodegenerative disease caused by a polyglutamine (polyQ) repeat expansion in the huntingtin protein [Huntington's Disease Collaborative Research Group (1993) Cell 72, 971-983]. To understand the mechanism by which polyQ repeats cause neurodegeneration and cell death, we modeled polyQ neurotoxicity in Caenorhabditis elegans. In our model, expression of N-terminal fragments of human huntingtin causes polyQ-dependent degeneration of neurons. We conducted a genetic screen to identify proteins that protect neurons from the toxic effects of expanded polyQ tracts. Loss of polyQ enhancer-1 (pqe-1) gene function strongly and specifically exacerbates neurodegeneration and cell death, whereas overexpression of a pqe-1 cDNA protects C. elegans neurons from the toxic effects of expanded huntingtin fragments. A glutamineproline-rich domain, along with a charged domain, is critical for PQE-1 protein function. Analysis of pqe-1 suggests that proteins exist that specifically protect neurons from the toxic effects of expanded polyQ disease proteins.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Caenorhabditis elegans / drug effects*
  • Caenorhabditis elegans / genetics
  • Chromosome Mapping
  • Helminth Proteins / genetics
  • Helminth Proteins / physiology*
  • Huntington Disease / etiology*
  • Neurons / drug effects*
  • Neurotoxicity Syndromes / prevention & control*
  • Peptides / genetics
  • Peptides / physiology*
  • Peptides / toxicity*
  • Proline-Rich Protein Domains
  • Transcription, Genetic

Substances

  • Helminth Proteins
  • Peptides
  • polyglutamine