Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa

摘要: Retinitis pigmentosa (RP) is an incurable neurodegenerative condition featuring photoreceptor death that leads to blindness. Currently, there no approved therapeutic for degenerative conditions like RP and atrophic age-related macular degeneration (AMD). Although are promising results in human gene therapy, a genetically diverse disorder, such gene-specific therapies would be practical small fraction of patients with RP. Here, we explore non-gene-specific strategy entails reprogramming photoreceptors towards anabolism by upregulating the mechanistic target rapamycin (mTOR) pathway. We conditionally ablated tuberous sclerosis complex 1 (Tsc1) gene, mTOR inhibitor, rods Pde6bH620Q/H620Q preclinical mouse model observed, functionally morphologically, improvement survival cones at early late disease stages. These elucidate ability metabolome slow degeneration. This may also applicable wider range diseases, as enhancement nutrient uptake not implicated multiple pathologies. Enhancing promoted neuronal function could potentially benefit number other conditions.