Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model.

Jiang, Li; Zhang, Houbin; Dizhoor, Alexander M; Boye, Shannon E; Hauswirth, William W; Frederick, Jeanne M; Baehr, Wolfgang · Proc Natl Acad Sci U S A · 2011

basic_science · Level V

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Abstract

RNA interference (RNAi) gene silencing is a potential therapeutic strategy for dominant retinal degeneration disorders. We used self-complementary (sc) AAV2/8 vector to develop an RNAi-based gene therapy in a dominant retinal degeneration mouse model expressing bovine GCAP1(Y99C). We established an in vitro shRNA screening assay based on EGFP-tagged bovine GCAP1, and identified a shRNA that effectively silenced the bovine GCAP1 transgene with ∼80% efficiency. Subretinal injection of scAAV2/8 carrying shRNA expression cassette showed robust expression as early as 1 wk after injection. The gene silencing significantly improved photoreceptor survival, delayed disease onset, and increased visual function. Our results provide a promising strategy toward effective RNAi-based gene therapy by scAAV2/8 delivery for dominant retinal diseases.

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