Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy

Eur J Hum Genet. 2013 Jan;21(1):62-8. doi: 10.1038/ejhg.2012.112. Epub 2012 Jun 6.

Abstract

Leber hereditary optic neuropathy (LHON) is a mitochondrially inherited form of visual dysfunction caused by mutations in several genes encoding subunits of the mitochondrial respiratory NADH-ubiquinone oxidoreductase complex (complex I). Development of gene therapies for LHON has been impeded by genetic heterogeneity and the need to deliver therapies to the mitochondria of retinal ganglion cells (RGCs), the cells primarily affected in LHON. The therapy under development entails intraocular injection of a nuclear yeast gene NADH-quinone oxidoreductase (NDI1) that encodes a single subunit complex I equivalent and as such is mutation independent. NDI1 is imported into mitochondria due to an endogenous mitochondrial localisation signal. Intravitreal injection represents a clinically relevant route of delivery to RGCs not previously used for NDI1. In this study, recombinant adenoassociated virus (AAV) serotype 2 expressing NDI1 (AAV-NDI1) was shown to protect RGCs in a rotenone-induced murine model of LHON. AAV-NDI1 significantly reduced RGC death by 1.5-fold and optic nerve atrophy by 1.4-fold. This led to a significant preservation of retinal function as assessed by manganese enhanced magnetic resonance imaging and optokinetic responses. Intraocular injection of AAV-NDI1 overcomes many barriers previously associated with developing therapies for LHON and holds great therapeutic promise for a mitochondrial disorder for which there are no effective therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Electron Transport Complex I / genetics*
  • Genetic Vectors / administration & dosage*
  • Humans
  • Intravitreal Injections
  • Mice
  • Microtubule-Associated Proteins / genetics
  • Optic Atrophy / pathology
  • Optic Atrophy / therapy
  • Optic Atrophy, Hereditary, Leber / pathology*
  • Optic Atrophy, Hereditary, Leber / therapy*
  • Retinal Ganglion Cells / pathology
  • Saccharomyces cerevisiae Proteins / genetics

Substances

  • Microtubule-Associated Proteins
  • Ndl1 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins
  • Electron Transport Complex I