Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease

Hum Mol Genet. 2005 Dec 15;14(24):3823-35. doi: 10.1093/hmg/ddi407. Epub 2005 Nov 8.

Abstract

Huntington disease (HD) is an adult onset neurodegenerative disorder that predominantly affects the striatum and cortex despite ubiquitous expression of mutant huntingtin (htt). Here we demonstrate that this pattern of selective degeneration is present in the YAC128 mouse model of HD. At 12 months, YAC128 mice show significant atrophy in the striatum, globus pallidus and cortex with relative sparing of the hippocampus and cerebellum (striatum: -10.4%, P<0.001; globus pallidus: -10.8%, P=0.04; cortex: -8.6%, P=0.001; hippocampus: +0.3%, P=0.9; cerebellum: +2.9%, P=0.6). Similarly, neuronal loss at this age is present in the striatum (-9.1%, P<0.001) and cortex of YAC128 mice (-8.3%, P=0.02) but is not detected in the hippocampus (+1.5%, P=0.72). Mutant htt expression levels are similar throughout the brain and fail to explain the selective neuronal degeneration. In contrast, nuclear detection of mutant htt occurs earliest and to the greatest extent in the striatum-the region most affected in HD. The appearance of EM48-reactive mutant htt in the nucleus in the striatum at 2 months coincides with the onset of behavioral abnormalities in YAC128 mice. In contrast to YAC128 mice, the R6/1 mouse model of HD, which expresses exon 1 of mutant htt, exhibits non-selective, widespread atrophy along with non-selective nuclear detection of mutant htt at 10 months of age. Our findings suggest that selective nuclear localization of mutant htt may contribute to the selective degeneration in HD and that appropriately regulated expression of full-length mutant htt in YAC128 mice results in a pattern of degeneration remarkably similar to human HD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Atrophy / genetics
  • Brain / pathology*
  • Cell Nucleus / genetics
  • Cell Nucleus / metabolism*
  • Cerebral Cortex / pathology
  • Disease Models, Animal
  • Gene Expression Regulation
  • Humans
  • Huntingtin Protein
  • Huntington Disease / etiology
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Mice
  • Mice, Transgenic
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Promoter Regions, Genetic

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins