DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice

J Clin Invest. 2012 Sep;122(9):3221-6. doi: 10.1172/JCI64833. Epub 2012 Aug 13.

Abstract

Mutations in the photoreceptor-specific flippase ABCA4 are associated with Stargardt disease and many other forms of retinal degeneration that currently lack curative therapies. Gene replacement is a logical strategy for ABCA4-associated disease, particularly given the current success of traditional viral-mediated gene delivery, such as with adeno-associated viral (AAV) vectors. However, the large size of the ABCA4 cDNA (6.8 kbp) has hampered progress in the development of genetic treatments. Nonviral DNA nanoparticles (NPs) can accommodate large genes, unlike traditional viral vectors, which have capacity limitations. We utilized an optimized DNA NP technology to subretinally deliver ABCA4 to Abca4-deficient mice. We detected persistent ABCA4 transgene expression for up to 8 months after injection and found marked correction of functional and structural Stargardt phenotypes, such as improved recovery of dark adaptation and reduced lipofuscin granules. These data suggest that DNA NPs may be an excellent, clinically relevant gene delivery approach for genes too large for traditional viral vectors.

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Analysis of Variance
  • Animals
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / therapy*
  • DNA / genetics*
  • Gene Expression
  • Genetic Therapy*
  • Humans
  • Injections, Intraocular
  • Lipofuscin / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nanoparticles / administration & dosage*
  • Phenotype
  • Retinal Pigment Epithelium / metabolism
  • Retinal Pigment Epithelium / pathology
  • Transgenes

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Lipofuscin
  • DNA