Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3

Hum Mol Genet. 2009 Dec 15;18(24):4843-52. doi: 10.1093/hmg/ddp456. Epub 2009 Sep 25.

Abstract

Protein cleavage is a common feature in human neurodegenerative disease. Ataxin-3 protein with an expanded polyglutamine (polyQ) repeat causes spinocerebellar ataxia type-3 (SCA3), also called Machado-Joseph disease, and is cleaved in mammalian cells, transgenic mice and SCA3 patient brain tissue. However, the pathological significance of Ataxin-3 cleavage has not been carefully examined. To gain insight into the significance of Ataxin-3 cleavage, we developed a Drosophila SL2 cell-based model as well as transgenic fly models. Our data indicate that Ataxin-3 protein cleavage is conserved in the fly and may be caspase-dependent as reported previously. Importantly, comparison of flies expressing either wild-type or caspase-site mutant proteins indicates that Ataxin-3 cleavage enhances neuronal loss in vivo. This genetic in vivo confirmation of the pathological role of Ataxin-3 cleavage indicates that therapies targeting Ataxin-3 cleavage might slow disease progression in SCA3 patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Chloromethyl Ketones / pharmacology
  • Animals
  • Animals, Genetically Modified
  • Ataxin-3
  • Caspase Inhibitors
  • Caspases / metabolism
  • Cell Line
  • Cysteine Proteinase Inhibitors / pharmacology
  • Disease Models, Animal
  • Drosophila melanogaster / genetics
  • Humans
  • Machado-Joseph Disease / metabolism*
  • Machado-Joseph Disease / pathology
  • Mice
  • Mutagenesis, Site-Directed
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Neurons / metabolism*
  • Neurons / pathology
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Repressor Proteins / genetics
  • Repressor Proteins / metabolism*

Substances

  • Amino Acid Chloromethyl Ketones
  • Caspase Inhibitors
  • Cysteine Proteinase Inhibitors
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • benzyloxycarbonylvalyl-alanyl-aspartyl fluoromethyl ketone
  • ATXN3 protein, human
  • Ataxin-3
  • Caspases