Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis

Aging Cell. 2003 Aug;2(4):209-17. doi: 10.1046/j.1474-9728.2003.00054.x.

Abstract

RNA interference (RNAi) can achieve sequence-selective inactivation of gene expression in a wide variety of eukaryotes by introducing double-stranded RNA corresponding to the target gene. Here we explore the potential of RNAi as a therapy for amyotrophic lateral sclerosis (ALS) caused by mutations in the Cu, Zn superoxide dismutase (SOD1) gene. Although the mutant SOD1 is toxic, the wild-type SOD1 performs important functions. Therefore, the ideal therapeutic strategy should be to selectively inhibit the mutant, but not the wild-type SOD1 expression. Because most SOD1 mutations are single nucleotide changes, to selectively silence the mutant requires single-nucleotide specificity. By coupling rational design of small interfering RNAs (siRNAs) with their validation in RNAi reactions in vitro and in vivo, we have identified siRNA sequences with this specificity. A similarly designed sequence, when expressed as small hairpin RNA (shRNA) under the control of an RNA polymerase III (pol III) promoter, retains the single-nucleotide specificity. Thus, RNAi is a promising therapy for ALS and other disorders caused by dominant, gain-of-function gene mutations.

Publication types

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

MeSH terms

  • Alleles
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / therapy*
  • Animals
  • Drosophila melanogaster
  • Gene Expression Regulation, Enzymologic / genetics
  • Gene Silencing / physiology*
  • Genes, Dominant / genetics
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Green Fluorescent Proteins
  • Humans
  • Luminescent Proteins
  • Mice
  • Point Mutation / genetics
  • RNA Interference / physiology*
  • RNA Polymerase III / genetics
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / pharmacology
  • Superoxide Dismutase / deficiency
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1
  • Transfection

Substances

  • Luminescent Proteins
  • RNA, Small Interfering
  • SOD1 protein, human
  • Green Fluorescent Proteins
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • RNA Polymerase III