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Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa

Research output: Contribution to journalReview articlepeer-review

Original languageEnglish
Pages (from-to)1463-1473
Number of pages11
JournalBiochemical Society Transactions
Volume46
Early online date21 Nov 2017
DOIs
Publication statusPublished - 17 Dec 2018

Abstract

Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes identified in patients. Central to disease pathogenesis is the progressive loss of retinal photoreceptors. Photoreceptors are specialised sensory neurons that exhibit a complex and highly dynamic morphology. The highly polarised and elaborated architecture of photoreceptors requires precise regulation of numerous cytoskeletal elements. In recent years, significant work has been placed on investigating the role of microtubules (specifically, the acetylated microtubular axoneme of the photoreceptor connecting cilium) and their role in normal photoreceptor function. This has been driven by the emerging field of ciliopathies, human diseases arising from mutations in genes required for cilia formation or function, of which RP is a frequently reported phenotype. Recent studies have highlighted an intimate relationship between cilia and the actin cystoskeleton. This review will focus on the role of actin in photoreceptors, examining the connection between actin dysregulation in RP.

    Research areas

  • USHER PROTEIN NETWORK, RHODOPSIN TRANSPORT, MYOSIN VIIA, FRAMESHIFT MUTATION, CRYSTAL-STRUCTURE, 208DELG MUTATION, HUMAN-DISEASE, GENE, ROD, WHIRLIN

ID: 90492389