Sensing Through Non-Sensing Ocular Ion Channels

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2020 Sep 24

PMID 32967234

Citations 8

Authors

Meha Kabra

Bikash Ranjan Pattnaik

Affiliations

Soon will be listed here.

Abstract

Ion channels are membrane-spanning integral proteins expressed in multiple organs, including the eye. In the eye, ion channels are involved in various physiological processes, like signal transmission and visual processing. A wide range of mutations have been reported in the corresponding genes and their interacting subunit coding genes, which contribute significantly to an array of blindness, termed ocular channelopathies. These mutations result in either a loss- or gain-of channel functions affecting the structure, assembly, trafficking, and localization of channel proteins. A dominant-negative effect is caused in a few channels formed by the assembly of several subunits that exist as homo- or heteromeric proteins. Here, we review the role of different mutations in switching a "sensing" ion channel to "non-sensing," leading to ocular channelopathies like Leber's congenital amaurosis 16 (LCA16), cone dystrophy, congenital stationary night blindness (CSNB), achromatopsia, bestrophinopathies, retinitis pigmentosa, etc. We also discuss the various in vitro and in vivo disease models available to investigate the impact of mutations on channel properties, to dissect the disease mechanism, and understand the pathophysiology. Innovating the potential pharmacological and therapeutic approaches and their efficient delivery to the eye for reversing a "non-sensing" channel to "sensing" would be life-changing.

Citing Articles

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Molecular mechanism of hyperactivation conferred by a truncation of TRPA1.

Bali A, Schaefer S, Trier I, Zhang A, Kabeche L, Paulsen C Nat Commun. 2023; 14(1):2867.

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Ion channels in dry eye disease.

Ashok N, Khamar P, DSouza S, Gijs M, Ghosh A, Sethu S Indian J Ophthalmol. 2023; 71(4):1215-1226.

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Inward rectifier potassium (Kir) channels in the retina: living our vision.

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