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Ayten, M.* ; Díaz-Lezama, N.* ; Ghanawi, H.* ; Haffelder, F.C.* ; Kajtna, J.* ; Straub, T.* ; Borsò, M.* ; Imhof, A.* ; Hauck, S.M. ; Koch, S.F.*

Metabolic plasticity in a Pde6b^STOP/STOP retinitis pigmentosa mouse model following rescue.

Mol. Metab. 88:101994 (2024)

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Retinitis pigmentosa (RP) is a hereditary retinal disease characterized by progressive photoreceptor degeneration, leading to vision loss. The best hope for a cure for RP lies in gene therapy. However, given that RP patients are most often diagnosed in the midst of ongoing photoreceptor degeneration, it is important to determine how the retinal proteome changes as RP disease progresses, and to identify which changes can be prevented, halted, or reversed by gene therapy. Here, we used our Pde6b-deficient RP gene therapy mouse model and demonstrated that Pde6b gene restoration led to a novel form of homeostatic plasticity in rod phototransduction which functionally compensates for the decreased number of rods. By profiling protein levels of metabolic genes and measuring metabolites, we observed an upregulation of proteins associated with oxidative phosphorylation in mutant and treated photoreceptors. Thus, the metabolic demands of the retina differ in our Pde6b-deficient RP mouse model and are not rescued by gene therapy treatment. These findings provide novel insights into features of both RP disease progression and long-term rescue with gene therapy.

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