Sustained effects of nonallele-specific Huntingtin silencing

Ann Neurol. 2009 Mar;65(3):276-85. doi: 10.1002/ana.21569.

Abstract

Objective: Huntington's disease (HD) is a fatal autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the huntingtin (htt) protein. No cure is available to date to alleviate neurodegeneration. Recent studies have demonstrated that RNA interference represents a promising approach for the treatment of autosomal dominant disorders. But whether an allele-specific silencing of mutant htt or a nonallele-specific silencing should be considered has not been addressed.

Methods: We developed small hairpin RNA targeting mutant or wild-type htt transcripts, or both.

Results: We confirmed the therapeutic potential of sihtt administered with lentiviral vectors in rodent models of HD and showed that initiation of small interfering RNA treatment after the onset of HD symptoms is still efficacious and reduces the HD-like pathology. We then addressed the question of the impact of nonallele-specific silencing and demonstrated that silencing of endogenous htt to 25 to 35% in vivo is altering several pathways associated with known htt functions but is not inducing overt toxicity or increasing striatal vulnerability up to 9 months after treatment.

Interpretation: These data indicate that the coincident silencing of the wild-type and mutant htt may be considered as a therapeutic tool for HD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line, Transformed
  • Corpus Striatum / metabolism
  • Deoxyglucose
  • Disease Models, Animal
  • Dopamine and cAMP-Regulated Phosphoprotein 32 / genetics
  • Dopamine and cAMP-Regulated Phosphoprotein 32 / metabolism
  • Doxycycline / metabolism
  • Exons / genetics
  • Female
  • Gene Expression Regulation / genetics
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics
  • Huntington Disease / metabolism
  • Huntington Disease / pathology
  • Huntington Disease / therapy*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mutation / genetics
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism*
  • RNA Interference*
  • RNA, Messenger / metabolism
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / metabolism
  • RNA, Small Interfering / therapeutic use
  • Rats
  • Rats, Wistar
  • Reproducibility of Results
  • Reverse Transcriptase Polymerase Chain Reaction
  • Succinate Dehydrogenase / metabolism

Substances

  • Dopamine and cAMP-Regulated Phosphoprotein 32
  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • RNA, Messenger
  • RNA, Small Interfering
  • Deoxyglucose
  • Succinate Dehydrogenase
  • Doxycycline