Huntington disease arises from a combinatory toxicity of polyglutamine and copper binding

Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14995-5000. doi: 10.1073/pnas.1308535110. Epub 2013 Aug 26.

Abstract

Huntington disease (HD) is a progressive neurodegenerative disorder caused by dominant polyglutamine (polyQ) expansion within the N terminus of huntingtin (Htt) protein. Abnormal metal accumulation in the striatum of HD patients has been reported for many years, but a causative relationship has not yet been established. Furthermore, if metal is indeed involved in HD, the underlying mechanism needs to be explored. Here using a Drosophila model of HD, wherein Htt exon1 with expanded polyQ (Htt exon1-polyQ) is introduced, we show that altered expression of genes involved in copper metabolism significantly modulates the HD progression. Intervention of dietary copper levels also modifies HD phenotypes in the fly. Copper reduction to a large extent decreases the level of oligomerized and aggregated Htt. Strikingly, substitution of two potential copper-binding residues of Htt, Met8 and His82, completely dissociates the copper-intensifying toxicity of Htt exon1-polyQ. Our results therefore indicate HD entails two levels of toxicity: the copper-facilitated protein aggregation as conferred by a direct copper binding in the exon1 and the copper-independent polyQ toxicity. The existence of these two parallel pathways converging into Htt toxicity also suggests that an ideal HD therapy would be a multipronged approach that takes both these actions into consideration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Animals, Genetically Modified
  • Brain / metabolism
  • Cation Transport Proteins / antagonists & inhibitors
  • Cation Transport Proteins / genetics*
  • Cation Transport Proteins / metabolism*
  • Copper / administration & dosage
  • Copper / metabolism*
  • Copper-Transporting ATPases
  • Disease Models, Animal
  • Drosophila Proteins / antagonists & inhibitors
  • Drosophila Proteins / genetics*
  • Drosophila Proteins / metabolism*
  • Drosophila melanogaster / genetics
  • Drosophila melanogaster / metabolism
  • Female
  • Gene Expression
  • Genes, Insect
  • Humans
  • Huntingtin Protein
  • Huntington Disease / etiology
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism*
  • Peptides / genetics
  • Peptides / metabolism*
  • Protein Binding
  • RNA Interference
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Trinucleotide Repeat Expansion

Substances

  • ATP7 protein, Drosophila
  • Cation Transport Proteins
  • Drosophila Proteins
  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Peptides
  • Recombinant Proteins
  • polyglutamine
  • Copper
  • Copper-Transporting ATPases