Ontology highlight
ABSTRACT:
PROVIDER: PRJNA901526 | ENA |
REPOSITORIES: ENA
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Project description:Inherited retinal degenerations (IRDs) are a leading cause of blindness among the young population in the developed world. Approximately half of IRDs initially manifest as gradual loss of night vision and visual fields, characteristic of retinitis pigmentosa (RP). Due to challenges in genetic testing, and the large heterogeneity of mutations underlying RP, targeted gene therapies are an impractical largescale solution in the foreseeable future. For this reason, identifying common key pathophysiological pathways in IRDs that could be used as targets for mutation-agnostic and disease-modifying therapies (DMTs) is warranted. In this study, we investigated retinal proteome of three distinct IRD mouse models, comparing to sex- and age-matched wild-type mice. Specifically, we used the Pde6βRd10 (rd10) and RhoP23H/WT (P23H) mouse models of autosomal recessive and autosomal dominant RP, respectively, as well as the Rpe65-/- mouse model of Leber´s congenital amaurosis type 2 (LCA2). The mice were housed at two distinct institutions and analyzed using LC-MS in three separate facilities/instruments following data-dependent and data-independent acquisition modes. This cross-institutional and multi-methodological approach signifies the reliability and reproducibility of the results. The largescale retinal proteome profiling, coupled with in vivo electroretinography recordings, provided us with a reliable basis for comparing the disease phenotypes and severity.
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Project description:Inherited retinal degenerations (IRDs) are a leading cause of blindness among the young population in the developed world. Approximately half of IRDs initially manifest as gradual loss of night vision and visual fields, characteristic of retinitis pigmentosa (RP). Due to challenges in genetic testing, and the large heterogeneity of mutations underlying RP, targeted gene therapies are an impractical largescale solution in the foreseeable future. For this reason, identifying common key pathophysiological pathways in IRDs that could be used as targets for mutation-agnostic and disease-modifying therapies (DMTs) is warranted. In this study, we investigated retinal proteome of three distinct IRD mouse models, comparing to sex- and age-matched wild-type mice. Specifically, we used the Pde6βRd10 (rd10) and RhoP23H/WT (P23H) mouse models of autosomal recessive and autosomal dominant RP, respectively, as well as the Rpe65-/- mouse model of Leber´s congenital amaurosis type 2 (LCA2). The mice were housed at two distinct institutions and analyzed using LC-MS in three separate facilities/instruments following data-dependent and data-independent acquisition modes. This cross-institutional and multi-methodological approach signifies the reliability and reproducibility of the results. The largescale retinal proteome profiling, coupled with in vivo electroretinography recordings, provided us with a reliable basis for comparing the disease phenotypes and severity.
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