Transcriptional abnormalities in Huntington disease

Trends Genet. 2003 May;19(5):233-8. doi: 10.1016/S0168-9525(03)00074-X.


Huntington disease (HD) is caused by a CAG repeat expansion that is translated into an abnormally long polyglutamine (polyQ) tract in the huntingtin protein. The precise mechanisms leading to neurodegeneration in HD have not been fully elucidated, but alterations in gene transcription could well be involved because the activities of several nuclear proteins are compromised by the polyQ mutation. Recent microarray studies also show relevant changes in gene expression profiles in HD models, providing useful information on the potential consequences of disrupted transcriptional pathways in HD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Gene Expression Regulation / genetics*
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Mice
  • Mice, Knockout
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Transcription, Genetic*


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