Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology

Cerebellum. 2013 Aug;12(4):441-55. doi: 10.1007/s12311-012-0432-0.

Abstract

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a fatal, dominant neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Clinical manifestations include cerebellar ataxia and pyramidal signs culminating in severe neuronal degeneration. Currently, there is no therapy able to modify disease progression. In the present study, we aimed at investigating one of the most severely affected brain regions in the disorder--the cerebellum--and the behavioral defects associated with the neuropathology in this region. For this purpose, we injected lentiviral vectors encoding full-length human mutant ataxin-3 in the mouse cerebellum of 3-week-old C57/BL6 mice. We show that circumscribed expression of human mutant ataxin-3 in the cerebellum mediates within a short time frame--6 weeks, the development of a behavioral phenotype including reduced motor coordination, wide-based ataxic gait, and hyperactivity. Furthermore, the expression of mutant ataxin-3 resulted in the accumulation of intranuclear inclusions, neuropathological abnormalities, and neuronal death. These data show that lentiviral-based expression of mutant ataxin-3 in the mouse cerebellum induces localized neuropathology, which is sufficient to generate a behavioral ataxic phenotype. Moreover, this approach provides a physiologically relevant, cost-effective and time-effective animal model to gain further insights into the pathogenesis of MJD and for the evaluation of experimental therapeutics of MJD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Ataxin-3
  • Cell Death / genetics
  • Cerebellum / metabolism*
  • Cerebellum / pathology*
  • Disease Models, Animal
  • Gene Expression Regulation*
  • Humans
  • Lentivirus / genetics
  • Machado-Joseph Disease / genetics*
  • Machado-Joseph Disease / metabolism
  • Machado-Joseph Disease / pathology*
  • Mice
  • Mice, Inbred C57BL
  • Mutation / genetics
  • Nuclear Proteins / biosynthesis
  • Nuclear Proteins / genetics*
  • Phenotype
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics*

Substances

  • Nuclear Proteins
  • Transcription Factors
  • Ataxin-3
  • Atxn3 protein, mouse