Therapeutic gene silencing delivered by a chemically modified small interfering RNA against mutant SOD1 slows amyotrophic lateral sclerosis progression

J Biol Chem. 2008 Jun 6;283(23):15845-52. doi: 10.1074/jbc.M800834200. Epub 2008 Mar 26.

Abstract

Inherited neurodegenerative diseases, such as Huntington disease and subset of Alzheimer disease, Parkinson disease, and amyotrophic lateral sclerosis, are caused by the mutant genes that have gained undefined properties that harm cells in the nervous system, causing neurodegeneration and clinical phenotypes. Lowering the mutant gene expression is predicted to slow the disease progression and produce clinical benefit. Administration of small interfering RNA (siRNA) can silence specific genes. However, long term delivery of siRNA to silence the mutant genes, a requirement for treatment of these chronic central nervous system (CNS) diseases, remains a critical unsolved issue. Here we designed and tested a chemically stabilized siRNA against human Cu,Zn-superoxide dismutase (SOD1) in a mouse model for amyotrophic lateral sclerosis. We show that the modified siRNA has enhanced stability and retains siRNA activity. Administration of this siRNA at the disease onset by long term infusion into the CNS resulted in widespread distribution of this siRNA, knocked down the mutant SOD1 expression, slowed the disease progression, and extended the survival. These results bring RNA interference therapy one step closer to its clinical application for treatment of chronic, devastating, and fatal CNS disorders.

Publication types

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

MeSH terms

  • Alzheimer Disease / enzymology
  • Alzheimer Disease / genetics
  • Alzheimer Disease / therapy
  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / therapy*
  • Animals
  • Cell Line
  • Chronic Disease
  • Disease Models, Animal
  • Gene Silencing*
  • Genetic Therapy*
  • Humans
  • Mice
  • Mutation*
  • Parkinson Disease / enzymology
  • Parkinson Disease / genetics
  • Parkinson Disease / therapy
  • RNA Stability / drug effects
  • RNA Stability / genetics
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / pharmacology*
  • Superoxide Dismutase / antagonists & inhibitors*
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1

Substances

  • RNA, Small Interfering
  • SOD1 protein, human
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1