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A combination treatment based on drug repurposing demonstrates mutation-agnostic efficacy in pre-clinical retinopathy models

Henri Leinonen, Jianye Zhang, Laurence M. Occelli, Umair Seemab, Elliot H. Choi, Luis Felipe L.P. Marinho, Janice Querubin, Alexander V. Kolesnikov, Anna Galińska, Katarzyna Kordecka, Thanh Hoang, Dominik Lewandowski, Timothy Lee, Elliott E. Einstein, David E. Einstein, Zhiqian Dong, Philip D. Kiser, Seth Blackshaw, Vladimir J. Kefalov, Marcin Tabaka, Andrzej T. Foik, Simon M. Petersen‐Jones, Krzysztof Palczewski

2024Nature Communications20 citationsDOIOpen Access PDF

Abstract

Inherited retinopathies are devastating diseases that in most cases lack treatment options. Disease-modifying therapies that mitigate pathophysiology regardless of the underlying genetic lesion are desirable due to the diversity of mutations found in such diseases. We tested a systems pharmacology-based strategy that suppresses intracellular cAMP and Ca2+ activity via G protein-coupled receptor (GPCR) modulation using tamsulosin, metoprolol, and bromocriptine coadministration. The treatment improves cone photoreceptor function and slows degeneration in Pde6βrd10 and RhoP23H/WT retinitis pigmentosa mice. Cone degeneration is modestly mitigated after a 7-month-long drug infusion in PDE6A-/- dogs. The treatment also improves rod pathway function in an Rpe65-/- mouse model of Leber congenital amaurosis but does not protect from cone degeneration. RNA-sequencing analyses indicate improved metabolic function in drug-treated Rpe65-/- and rd10 mice. Our data show that catecholaminergic GPCR drug combinations that modify second messenger levels via multiple receptor actions provide a potential disease-modifying therapy against retinal degeneration.

Topics & Concepts

Retinal degenerationRetinitis pigmentosaMedicinePharmacologyRPE65G protein-coupled receptorVisual phototransductionBioinformaticsRetinalBiologyReceptorOphthalmologyInternal medicineRetinal pigment epitheliumRetinal Development and DisordersRetinal Diseases and TreatmentsReceptor Mechanisms and Signaling
A combination treatment based on drug repurposing demonstrates mutation-agnostic efficacy in pre-clinical retinopathy models | Litcius