Matrix metalloproteinases are modifiers of huntingtin proteolysis and toxicity in Huntington's disease

Neuron. 2010 Jul 29;67(2):199-212. doi: 10.1016/j.neuron.2010.06.021.

Abstract

Proteolytic cleavage of huntingtin (Htt) is known to be a key event in the pathogenesis of Huntington's disease (HD). Our understanding of proteolytic processing of Htt has thus far focused on the protease families-caspases and calpains. Identifying critical proteases involved in Htt proteolysis and toxicity using an unbiased approach has not been reported. To accomplish this, we designed a high-throughput western blot-based screen to examine the generation of the smallest N-terminal polyglutamine-containing Htt fragment. We screened 514 siRNAs targeting the repertoire of human protease genes. This screen identified 11 proteases that, when inhibited, reduced Htt fragment accumulation. Three of these belonged to the matrix metalloproteinase (MMP) family. One family member, MMP-10, directly cleaves Htt and prevents cell death when knocked down in striatal Hdh(111Q/111Q) cells. Correspondingly, MMPs are activated in HD mouse models, and loss of function of Drosophila homologs of MMPs suppresses Htt-induced neuronal dysfunction in vivo.

Publication types

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

MeSH terms

  • Animals
  • Caspases / metabolism
  • Cell Death / drug effects
  • Cell Death / genetics
  • Cell Line, Transformed
  • Corpus Striatum / pathology
  • Disease Models, Animal
  • Drosophila
  • Gene Expression Regulation, Enzymologic / drug effects
  • Gene Expression Regulation, Enzymologic / genetics
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Matrix Metalloproteinases / classification
  • Matrix Metalloproteinases / genetics
  • Matrix Metalloproteinases / metabolism*
  • Mice
  • Mice, Neurologic Mutants
  • Mutation / genetics
  • Nerve Tissue Proteins / drug effects
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Nerve Tissue Proteins / toxicity*
  • Neurons / drug effects
  • Neurons / metabolism
  • Nuclear Proteins / drug effects
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Nuclear Proteins / toxicity*
  • Peptides / genetics
  • Peptides / metabolism
  • RNA, Small Interfering / pharmacology
  • RNA, Small Interfering / therapeutic use
  • Transfection / methods

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • RNA, Small Interfering
  • polyglutamine
  • Caspases
  • Matrix Metalloproteinases