Knockout and Replacement Gene Surgery to Treat Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa

Hum Gene Ther. 2024 Mar;35(5-6):151-162. doi: 10.1089/hum.2023.201.

Abstract

Mutations in the rhodopsin (RHO) gene are the predominant causes of autosomal dominant retinitis pigmentosa (adRP). Given the diverse gain-of-function mutations, therapeutic strategies targeting specific sequences face significant challenges. Here, we provide a universal approach to conquer this problem: we have devised a CRISPR-Cas12i-based, mutation-independent gene knockout and replacement compound therapy carried by a dual AAV2/8 system. In this study, we successfully delayed the progression of retinal degeneration in the classic mouse disease model RhoP23H, and also RhoP347S, a new native mouse mutation model we developed. Our research expands the horizon of potential options for future treatments of RHO-mediated adRP.

Keywords: adeno-associated viral vectors; autosomal dominant retinitis pigmentosa; gene editing; gene therapy; rhodopsin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Genes, Dominant
  • Mice
  • Mice, Knockout
  • Mutation
  • Retinal Degeneration* / genetics
  • Retinal Degeneration* / therapy
  • Retinitis Pigmentosa* / genetics
  • Retinitis Pigmentosa* / therapy
  • Rhodopsin / genetics

Substances

  • Rhodopsin