Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models

Neurobiol Dis. 2006 Feb;21(2):444-55. doi: 10.1016/j.nbd.2005.08.007. Epub 2005 Oct 17.

Abstract

Huntington disease (HD) is a devastating neuropsychiatric disease caused by expansion of a trinucleotide repeat (CAG) in the HD gene. Neuropathological changes include the appearance of N-terminal huntingtin fragments, decreased brain weight and apoptotic neuronal loss in a select subset of neurons located in the striatum. There is still controversy over whether homozygosity for the mutation in HD is associated with a more severe phenotype. In humans, resolution of this issue has been complicated by the small number of homozygous patients and difficulty in the definition of reliable phenotypic endpoints. In order to definitively determine whether there is a correlation between phenotypic severity and expression levels of mutant huntingtin, we undertook a behavioral and neuropathological assessment of YAC128 mice with varying levels of mutant huntingtin. The results reveal a clear relationship between levels of mutant huntingtin and phenotype defined by earlier age of onset, more rapid progression, enhanced striatal volume loss, acceleration of nuclear huntingtin fragment accumulation and increased sensitivity to NMDAR-mediated excitotoxicity. These results provide clear evidence in vivo supporting a more severe phenotype associated with increased levels of mutant huntingtin as seen in homozygotes for HD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Animals
  • Blotting, Western
  • Brain / metabolism
  • Brain / pathology
  • Chromosomes, Artificial, Yeast
  • Disease Models, Animal
  • Disease Progression
  • Homozygote*
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism
  • In Situ Hybridization, Fluorescence
  • Mice
  • Mice, Transgenic
  • Motor Activity / physiology
  • Nerve Tissue Proteins / metabolism*
  • Nuclear Proteins / metabolism*
  • Phenotype*
  • RNA, Messenger / analysis
  • Receptors, N-Methyl-D-Aspartate / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Trinucleotide Repeat Expansion

Substances

  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • RNA, Messenger
  • Receptors, N-Methyl-D-Aspartate