Nuclear Localization of Huntingtin mRNA Is Specific to Cells of Neuronal Origin

Cell Rep. 2018 Sep 4;24(10):2553-2560.e5. doi: 10.1016/j.celrep.2018.07.106.

Abstract

Huntington's disease (HD) is a monogenic neurodegenerative disorder representing an ideal candidate for gene silencing with oligonucleotide therapeutics (i.e., antisense oligonucleotides [ASOs] and small interfering RNAs [siRNAs]). Using an ultra-sensitive branched fluorescence in situ hybridization (FISH) method, we show that ∼50% of wild-type HTT mRNA localizes to the nucleus and that its nuclear localization is observed only in neuronal cells. In mouse brain sections, we detect Htt mRNA predominantly in neurons, with a wide range of Htt foci observed per cell. We further show that siRNAs and ASOs efficiently eliminate cytoplasmic HTT mRNA and HTT protein, but only ASOs induce a partial but significant reduction of nuclear HTT mRNA. We speculate that, like other mRNAs, HTT mRNA subcellular localization might play a role in important neuronal regulatory mechanisms.

Keywords: ASOs; CAG repeat RNA foci; HTT mRNA; Huntington’s disease; RNA fluorescence in situ hybridization; confocal microscopy; siRNAs.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Nucleus / metabolism
  • Cells, Cultured
  • Female
  • Gene Silencing
  • HeLa Cells
  • Humans
  • Huntington Disease / metabolism*
  • In Situ Hybridization, Fluorescence
  • Mice
  • Neurons / cytology*
  • Neurons / metabolism*
  • Oligonucleotides, Antisense / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism*
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / physiology
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Oligonucleotides, Antisense
  • RNA, Messenger
  • RNA, Small Interfering