Improvement of neuronal visual responses in the superior colliculus in Prph2(Rd2/Rd2) mice following gene therapy

Mol Cell Neurosci. 2004 Jan;25(1):103-10. doi: 10.1016/j.mcn.2003.09.020.

Abstract

Inherited retinal degenerations are a major cause of blindness for which there are currently no effective therapies. Significant progress concerning in vivo gene transfer has allowed retardation of degeneration or retinal functional improvement in different animal models. To date, there has been no evaluation of the impact of these treatments on higher visual function, a critical step for validating gene therapy treatment strategies. Here, we have used adeno-associated (AAV2)-mediated gene transfer of Prph2 in the Prph2(Rd2/Rd2) mouse model. We then assessed higher visual function by recording from central visually responsive neurons in the superior colliculus and improvements were correlated in individual animals with retinal function (ERG) and histological and biochemical changes. Although gene replacement therapy only partially restores photoreceptor morphology, it results in a 300% increase of the visual cycle protein rhodopsin, leading to retinal function improvement (250% increase of b-wave amplitude) and significantly higher central visual responses (166% increase at 24 cd/m(2)). These findings suggest that gene replacement therapy leading to even relatively modest structural improvement may result in improved central visual function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials / genetics
  • Animals
  • Disease Models, Animal
  • Electroretinography
  • Genetic Therapy / methods*
  • Genetic Therapy / trends
  • Genetic Vectors / genetics
  • Intermediate Filament Proteins / deficiency*
  • Intermediate Filament Proteins / genetics
  • Membrane Glycoproteins / deficiency*
  • Membrane Glycoproteins / genetics
  • Membrane Potentials / genetics
  • Mice
  • Mice, Transgenic
  • Nerve Regeneration / genetics*
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics
  • Peripherins
  • Photic Stimulation
  • Photoreceptor Cells / growth & development
  • Photoreceptor Cells / metabolism
  • Photoreceptor Cells / pathology
  • Recovery of Function / genetics
  • Retinal Degeneration / genetics
  • Retinal Degeneration / metabolism
  • Retinal Degeneration / therapy*
  • Rhodopsin / metabolism
  • Superior Colliculi / cytology
  • Superior Colliculi / growth & development*
  • Superior Colliculi / metabolism
  • Synaptic Transmission / genetics
  • Up-Regulation / genetics
  • Vision, Ocular / genetics
  • Visual Pathways / cytology
  • Visual Pathways / growth & development*
  • Visual Pathways / metabolism

Substances

  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • Peripherins
  • Prph2 protein, mouse
  • Rhodopsin