Technological advancements to study cellular signaling pathways in inherited retinal degenerative diseases.

Akanksha Roy, Riet Hilhorst, John Groten, François Paquet-Durand, Tushar Tomar

Journal: Current opinion in pharmacology 2021;60():102-110

PMID: 34388439

Full Text on Elsevier Science View on PubMed

Abstract

Inherited retinal degenerative diseases (IRDs) are rare neurodegenerative disorders with mutations in hundreds of genes leading to vision loss, primarily owing to photoreceptor cell death. This genetic diversity is impeding development of effective treatment options. Gene-based therapies have resulted in the first FDA-approved drug (Luxturna) for RPE65-specific IRD. Although currently explored in clinical trials, genomic medicines are mutation-dependent, hence suitable only for patients harboring a specific mutation. Better understanding of the pathways leading to photoreceptor degeneration may help to determine common targets and develop mutation-independent therapies for larger groups of patients with IRDs. In this review, we discuss the key pathways involved in photoreceptor cell death studied by transcriptomics, proteomics, and metabolomics techniques to identify potential therapeutic targets in IRDs.

Address: Wageningen University & Research, Wageningen, 6708 WE, the Netherlands; PamGene International B.V., 's-Hertogenbosch, 5200 BJ, the Netherlands.; PamGene International B.V., 's-Hertogenbosch, 5200 BJ, the Netherlands.; Institute for Ophthalmic Research, University of Tübingen, Tübingen, 72076, Germany.; PamGene International B.V., 's-Hertogenbosch, 5200 BJ, the Netherlands. Electronic address: [email protected].

DOI: 10.1016/j.coph.2021.07.002

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MeSH Terms: Genetic Therapy, Humans, Mutation, Retinal Diseases, cis-trans-Isomerases