From neuronal inclusions to neurodegeneration: neuropathological investigation of a transgenic mouse model of Huntington's disease

Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):971-9. doi: 10.1098/rstb.1999.0448.

Abstract

Huntington's disease (HD) is an inherited progressive neurodegenerative disease caused by the expansion of a polyglutamine repeat sequence within a novel protein. Recent work has shown that abnormal intranuclear inclusions of aggregated mutant protein within neurons is a characteristic feature shared by HD and several other diseases involving glutamine repeat expansion. This suggests that in each of the these disorders the affected nerve cells degenerate as a result of these abnormal inclusions. A transgenic mouse model of HD has been generated by introducing exon 1 of the HD gene containing a highly expanded CAG sequence into the mouse germline. These mice develop widespread neuronal intranuclear inclusions and neurodegeneration specifically within those areas of the brain known to degenerate in HD. We have investigated the sequence of pathological changes that occur after the formation of nuclear inclusions and that precede neuronal cell death in these cells. Although the relation between inclusion formation and neurodegeneration has recently been questioned, a full characterization of the pathways linking protein aggregation and cell death will resolve some of these controversies and will additionally provide new targets for potential therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / metabolism*
  • Gene Expression Regulation
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics
  • Huntington Disease / metabolism*
  • In Situ Hybridization
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Mice, Transgenic
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Receptors, AMPA / metabolism
  • Receptors, GABA-A / metabolism
  • Receptors, GABA-B / metabolism
  • Receptors, Kainic Acid / metabolism
  • Receptors, Metabotropic Glutamate / metabolism
  • Receptors, N-Methyl-D-Aspartate / metabolism
  • Receptors, Neurotransmitter / genetics*
  • Receptors, Neurotransmitter / metabolism*

Substances

  • HTT protein, human
  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Receptors, AMPA
  • Receptors, GABA-A
  • Receptors, GABA-B
  • Receptors, Kainic Acid
  • Receptors, Metabotropic Glutamate
  • Receptors, N-Methyl-D-Aspartate
  • Receptors, Neurotransmitter