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Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies
Rhodopsin is a light-sensitive G protein-coupled receptor that initiates the phototransduction cascade in rod photoreceptors. Mutations in the rhodopsin-encoding gene RHO are the leading cause of autosomal dominant retinitis pigmentosa (ADRP). To date, more than 200 mutations have been identified in...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106759/ https://www.ncbi.nlm.nih.gov/pubmed/37077319 http://dx.doi.org/10.3389/fnins.2023.1132179 |
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author | Zhen, Fangyuan Zou, Tongdan Wang, Ting Zhou, Yongwei Dong, Shuqian Zhang, Houbin |
author_facet | Zhen, Fangyuan Zou, Tongdan Wang, Ting Zhou, Yongwei Dong, Shuqian Zhang, Houbin |
author_sort | Zhen, Fangyuan |
collection | PubMed |
description | Rhodopsin is a light-sensitive G protein-coupled receptor that initiates the phototransduction cascade in rod photoreceptors. Mutations in the rhodopsin-encoding gene RHO are the leading cause of autosomal dominant retinitis pigmentosa (ADRP). To date, more than 200 mutations have been identified in RHO. The high allelic heterogeneity of RHO mutations suggests complicated pathogenic mechanisms. Here, we discuss representative RHO mutations as examples to briefly summarize the mechanisms underlying rhodopsin-related retinal dystrophy, which include but are not limited to endoplasmic reticulum stress and calcium ion dysregulation resulting from protein misfolding, mistrafficking, and malfunction. Based on recent advances in our understanding of disease mechanisms, various treatment methods, including adaptation, whole-eye electrical stimulation, and small molecular compounds, have been developed. Additionally, innovative therapeutic treatment strategies, such as antisense oligonucleotide therapy, gene therapy, optogenetic therapy, and stem cell therapy, have achieved promising outcomes in preclinical disease models of rhodopsin mutations. Successful translation of these treatment strategies may effectively ameliorate, prevent or rescue vision loss related to rhodopsin mutations. |
format | Online Article Text |
id | pubmed-10106759 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101067592023-04-18 Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies Zhen, Fangyuan Zou, Tongdan Wang, Ting Zhou, Yongwei Dong, Shuqian Zhang, Houbin Front Neurosci Neuroscience Rhodopsin is a light-sensitive G protein-coupled receptor that initiates the phototransduction cascade in rod photoreceptors. Mutations in the rhodopsin-encoding gene RHO are the leading cause of autosomal dominant retinitis pigmentosa (ADRP). To date, more than 200 mutations have been identified in RHO. The high allelic heterogeneity of RHO mutations suggests complicated pathogenic mechanisms. Here, we discuss representative RHO mutations as examples to briefly summarize the mechanisms underlying rhodopsin-related retinal dystrophy, which include but are not limited to endoplasmic reticulum stress and calcium ion dysregulation resulting from protein misfolding, mistrafficking, and malfunction. Based on recent advances in our understanding of disease mechanisms, various treatment methods, including adaptation, whole-eye electrical stimulation, and small molecular compounds, have been developed. Additionally, innovative therapeutic treatment strategies, such as antisense oligonucleotide therapy, gene therapy, optogenetic therapy, and stem cell therapy, have achieved promising outcomes in preclinical disease models of rhodopsin mutations. Successful translation of these treatment strategies may effectively ameliorate, prevent or rescue vision loss related to rhodopsin mutations. Frontiers Media S.A. 2023-04-03 /pmc/articles/PMC10106759/ /pubmed/37077319 http://dx.doi.org/10.3389/fnins.2023.1132179 Text en Copyright © 2023 Zhen, Zou, Wang, Zhou, Dong and Zhang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Zhen, Fangyuan Zou, Tongdan Wang, Ting Zhou, Yongwei Dong, Shuqian Zhang, Houbin Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies |
title | Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies |
title_full | Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies |
title_fullStr | Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies |
title_full_unstemmed | Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies |
title_short | Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies |
title_sort | rhodopsin-associated retinal dystrophy: disease mechanisms and therapeutic strategies |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106759/ https://www.ncbi.nlm.nih.gov/pubmed/37077319 http://dx.doi.org/10.3389/fnins.2023.1132179 |
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