Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model

J Neurosci. 2004 Feb 25;24(8):1881-7. doi: 10.1523/JNEUROSCI.4407-03.2004.

Abstract

Nine neurodegenerative diseases including Huntington's disease (HD) and spinocerebellar ataxia type 7 (SCA7) are caused by an expansion of a polyglutamine (polyQ) stretch in the respective proteins. Aggregation of expanded polyQ-containing proteins into the nucleus is a hallmark of these diseases. Recent evidence indicates that transcriptional dysregulation may contribute to the molecular pathogenesis of these diseases. Using SCA7 and HD mouse models in which we recently described a retinal phenotype, we investigated whether altered gene expression underlies photoreceptor dysfunction. In both models, rhodopsin promoter activity was early and dramatically repressed, suggesting that downregulation of photoreceptor-specific genes plays a major role in polyQ-induced retinal dysfunction. Because the rhodopsin promoter drives mutant ataxin-7 expression in our SCA7 mice, we also assessed whether downregulation of mutant SCA7 transgene would reverse retinopathy progression and aggregate formation. Although residual expression of mutant ataxin-7 was found negligible from 9 weeks of age, SCA7 transgenic mice showed a progressive decline of photoreceptor activity leading to a complete loss of electroretinographic responses from 1 year of age. At this age, aggregates were cleared in only half of the photoreceptors, indicating that their formation is not fully reversible in this model. We demonstrate here that abolishing full-length mutant ataxin-7 expression did not reverse retinopathy progression in SCA7 mice, raising the possibility that some polyQ-induced pathological events might be irreversible.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Animals
  • Ataxin-7
  • Disease Models, Animal
  • Disease Progression
  • Down-Regulation / genetics
  • Electroretinography
  • Gene Expression Regulation, Developmental*
  • Huntingtin Protein
  • Huntington Disease / genetics
  • Huntington Disease / pathology
  • Huntington Disease / physiopathology*
  • Macromolecular Substances
  • Mice
  • Mice, Transgenic
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Peptides / genetics*
  • Photoreceptor Cells, Vertebrate / metabolism
  • Photoreceptor Cells, Vertebrate / pathology
  • Promoter Regions, Genetic
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Retinal Degeneration / genetics
  • Retinal Degeneration / metabolism*
  • Retinal Degeneration / pathology
  • Rhodopsin / genetics
  • Rhodopsin / metabolism
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / pathology
  • Spinocerebellar Ataxias / physiopathology*
  • Transgenes
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Ataxin-7
  • Atxn7 protein, mouse
  • Htt protein, mouse
  • Huntingtin Protein
  • Macromolecular Substances
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • Recombinant Proteins
  • polyglutamine
  • Rhodopsin