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Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with C2orf71 retinal ciliopathies exhibiting a severe clinic...

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Autores principales: Zufiaurre-Seijo, Maddalen, García-Arumí, José, Duarri, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341768/
https://www.ncbi.nlm.nih.gov/pubmed/37445847
http://dx.doi.org/10.3390/ijms241310670
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author Zufiaurre-Seijo, Maddalen
García-Arumí, José
Duarri, Anna
author_facet Zufiaurre-Seijo, Maddalen
García-Arumí, José
Duarri, Anna
author_sort Zufiaurre-Seijo, Maddalen
collection PubMed
description Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with C2orf71 retinal ciliopathies exhibiting a severe clinical phenotype. Our understanding of the disease process and the role of PCARE in the healthy retina significantly limits our capacity to transfer recent technical developments into viable therapy choices. This study summarizes the current understanding of C2orf71-related retinal diseases, including their clinical manifestations and an unclear genotype-phenotype correlation. It discusses molecular and functional studies on the photoreceptor-specific ciliary PCARE, focusing on the photoreceptor cell and its ciliary axoneme. It is proposed that PCARE is an actin-associated protein that interacts with WASF3 to regulate the actin-driven expansion of the ciliary membrane during the development of a new outer segment disk in photoreceptor cells. This review also introduces various cellular and animal models used to model these diseases and provides an overview of potential treatments.
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spelling pubmed-103417682023-07-14 Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases Zufiaurre-Seijo, Maddalen García-Arumí, José Duarri, Anna Int J Mol Sci Review Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with C2orf71 retinal ciliopathies exhibiting a severe clinical phenotype. Our understanding of the disease process and the role of PCARE in the healthy retina significantly limits our capacity to transfer recent technical developments into viable therapy choices. This study summarizes the current understanding of C2orf71-related retinal diseases, including their clinical manifestations and an unclear genotype-phenotype correlation. It discusses molecular and functional studies on the photoreceptor-specific ciliary PCARE, focusing on the photoreceptor cell and its ciliary axoneme. It is proposed that PCARE is an actin-associated protein that interacts with WASF3 to regulate the actin-driven expansion of the ciliary membrane during the development of a new outer segment disk in photoreceptor cells. This review also introduces various cellular and animal models used to model these diseases and provides an overview of potential treatments. MDPI 2023-06-26 /pmc/articles/PMC10341768/ /pubmed/37445847 http://dx.doi.org/10.3390/ijms241310670 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Zufiaurre-Seijo, Maddalen
García-Arumí, José
Duarri, Anna
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
title Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
title_full Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
title_fullStr Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
title_full_unstemmed Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
title_short Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
title_sort clinical and molecular aspects of c2orf71/pcare in retinal diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341768/
https://www.ncbi.nlm.nih.gov/pubmed/37445847
http://dx.doi.org/10.3390/ijms241310670
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