Adenovirus-mediated silencing of huntingtin expression by shRNA

Hum Gene Ther. 2005 May;16(5):618-26. doi: 10.1089/hum.2005.16.618.

Abstract

Huntington's disease (HD) is an inherited autosomal dominant, neurodegenerative disease that is caused by a gain of function mutation characterized by the expansion of a CAG trinucleotide repeat in exon 1 of the huntingtin (htt) gene. Since hairpin small interference RNA (shRNA) technology allows inhibition of specific gene expression in vitro and in vivo, vector-mediated expression of an shRNA directed to htt mRNA could form the basis of a new treatment modality for HD. By initial plasmid transfection of 293 cells, we identified one exon 1-targeted shRNA, which efficiently inhibited expression of an htt exon 1-GFP fusion protein and the endogenous htt gene. A replication-deficient adenovirus (Ad) vector Adie-1-1 was constructed to express this shRNA from the U6 promoter. In A549 cells expressing exon 1 of htt with an expanded CAG allele, Adie- 1-1 efficiently prevented htt exon 1 expression and htt aggregate formation. In addition, in different neuronal and nonneuronal cell lines, Adie-1-1 efficiently inhibited the expression of endogenous htt. Together, this data indicates the delineation of an shRNA strategy that may become the basis for treatment of HD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoviridae / genetics
  • Blotting, Western
  • Cell Line
  • Cell Line, Tumor
  • Exons
  • Fluorometry
  • Gene Silencing*
  • Gene Targeting
  • Genetic Vectors
  • Green Fluorescent Proteins / metabolism
  • HeLa Cells
  • Humans
  • Huntingtin Protein
  • Nerve Tissue Proteins / antagonists & inhibitors*
  • Nerve Tissue Proteins / genetics*
  • Neuroblastoma / pathology
  • Neurons / metabolism
  • Nuclear Proteins / antagonists & inhibitors*
  • Nuclear Proteins / genetics*
  • Plasmids
  • Promoter Regions, Genetic
  • RNA, Small Nuclear / metabolism*
  • Recombinant Fusion Proteins / metabolism
  • Transduction, Genetic
  • Transfection

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • RNA, Small Nuclear
  • Recombinant Fusion Proteins
  • Green Fluorescent Proteins