Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis

Hum Mol Genet. 2014 Feb 1;23(3):668-81. doi: 10.1093/hmg/ddt454. Epub 2013 Sep 18.

Abstract

Amyotrophic lateral sclerosis (ALS) causes motor neuron degeneration and paralysis. No treatment can significantly slow or arrest the disease progression. Mutations in the SOD1 gene cause a subset of familial ALS by a gain of toxicity. In principle, these cases could be treated with RNAi that destroys the mutant mRNA, thereby abolishing the toxic protein. However, no system is available to efficiently deliver the RNAi therapy. Recombinant adenoassociated virus (rAAV) is a promising vehicle due to its long-lasting gene expression and low toxicity. However, ALS afflicts broad areas of the central nervous system (CNS). A lack of practical means to spread rAAV broadly has hindered its application in treatment of ALS. To overcome this barrier, we injected several rAAV serotypes into the cerebrospinal fluid. We found that some rAAV serotypes such as rAAVrh10 and rAAV9 transduced cells throughout the length of the spinal cord following a single intrathecal injection and in the broad forebrain following a single injection into the third ventricle. Furthermore, a single intrathecal injection of rAAVrh10 robustly transduced motor neurons throughout the spinal cord in a non-human primate. These results suggested a therapeutic potential of this vector for ALS. To test this, we injected a rAAVrh10 vector that expressed an artificial miRNA targeting SOD1 into the SOD1G93A mice. This treatment knocked down the mutant SOD1 expression and slowed the disease progression. Our results demonstrate the potential of rAAVs for delivering gene therapy to treat ALS and other diseases that afflict broad areas of the CNS.

Publication types

  • Research Support, American Recovery and Reinvestment Act
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / therapy*
  • Animals
  • Callithrix
  • Central Nervous System / physiology
  • Cerebrospinal Fluid / physiology
  • Dependovirus / genetics*
  • Female
  • Genetic Therapy / methods
  • Genetic Vectors / administration & dosage*
  • Genetic Vectors / pharmacokinetics
  • Green Fluorescent Proteins / genetics
  • HEK293 Cells
  • Humans
  • Injections, Spinal
  • Mice
  • Mice, Transgenic
  • RNA Interference
  • Spinal Cord* / pathology
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1
  • Transduction, Genetic / methods*
  • Transgenes

Substances

  • SOD1 protein, human
  • Green Fluorescent Proteins
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1

Supplementary concepts

  • Amyotrophic lateral sclerosis 1