Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood

Proc Natl Acad Sci U S A. 2007 Sep 4;104(36):14424-9. doi: 10.1073/pnas.0703652104. Epub 2007 Aug 27.


Highly quantitative biomarkers of neurodegenerative disease remain an important need in the urgent quest for disease-modifying therapies. For Huntington's disease (HD), a genetic test is available (trait marker), but necessary state markers are still in development. In this report, we describe a large battery of transcriptomic tests explored as state biomarker candidates. In an attempt to exploit the known neuroinflammatory and transcriptional perturbations of disease, we measured relevant mRNAs in peripheral blood cells. The performance of these potential markers was weak overall, with only one mRNA, immediate early response 3 (IER3), showing a modest but significant increase of 32% in HD samples compared with controls. No statistically significant differences were found for any other mRNAs tested, including a panel of 12 RNA biomarkers identified in a previous report [Borovecki F, Lovrecic L, Zhou J, Jeong H, Then F, Rosas HD, Hersch SM, Hogarth P, Bouzou B, Jensen RV, et al. (2005) Proc Natl Acad Sci USA 102:11023-11028]. The present results may nonetheless inform the future design and testing of HD biomarker strategies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Gene Expression Regulation
  • Humans
  • Huntington Disease / blood*
  • Huntington Disease / genetics*
  • Intracellular Membranes / metabolism*
  • Lymphocytes / metabolism*
  • Oligonucleotide Array Sequence Analysis
  • RNA / genetics
  • Transcription, Genetic / genetics*


  • Biomarkers
  • RNA

Associated data

  • GEO/GSE8762