On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies

Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose cells produce a cilium, such as the retina, c...

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Autores: Sánchez-Bellver, Laura, Toulis, Vasileios, Marfany i Nadal, Gemma
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/176853
Acceso en línea:https://hdl.handle.net/2445/176853
Access Level:acceso abierto
Palabra clave:Ciliats
Malalties de la retina
Ciliata
Retinal diseases
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spelling On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal DystrophiesSánchez-Bellver, LauraToulis, VasileiosMarfany i Nadal, GemmaCiliatsMalalties de la retinaCiliataRetinal diseasesCiliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose cells produce a cilium, such as the retina, cochlea or kidney, are affected by mutations in ciliary-related genes. In the retina, photoreceptor cells present a highly specialized neurosensory cilium, the outer segment, stacked with membranous disks where photoreception and phototransduction occurs. The daily renewal of the more distal disks is a unique characteristic of photoreceptor outer segments, resulting in an elevated protein demand. All components necessary for outer segment formation, maintenance and function have to be transported from the photoreceptor inner segment, where synthesis occurs, to the cilium. Therefore, efficient transport of selected proteins is critical for photoreceptor ciliogenesis and function, and any alteration in either cargo delivery to the cilium or intraciliary trafficking compromises photoreceptor survival and leads to retinal degeneration. To date, mutations in more than 100 ciliary genes have been associated with retinal dystrophies, accounting for almost 25% of these inherited rare diseases. Interestingly, not all mutations in ciliary genes that cause retinal degeneration are also involved in pleiotropic pathologies in other ciliated organs. Depending on the mutation, the same gene can cause syndromic or non-syndromic retinopathies, thus emphasizing the highly refined specialization of the photoreceptor neurosensory cilia, and raising the possibility of photoreceptor-specific molecular mechanisms underlying common ciliary functions such as ciliary transport. In this review, we will focus on ciliary transport in photoreceptor cells and discuss the molecular complexity underpinning retinal ciliopathies, with a special emphasis on ciliary genes that, when mutated, cause either syndromic or non-syndromic retinal ciliopathies.Frontiers Media2021202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion25 p.application/pdfhttps://hdl.handle.net/2445/176853Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.3389/fcell.2021.623734Frontiers In Cell And Developmental Biology, 2021, vol. 9, num. 623734https://doi.org/10.3389/fcell.2021.623734cc-by (c) Sánchez Bellver, Laura et al., 2021http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1768532026-05-29T05:05:01Z
dc.title.none.fl_str_mv On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
title On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
spellingShingle On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
Sánchez-Bellver, Laura
Ciliats
Malalties de la retina
Ciliata
Retinal diseases
title_short On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
title_full On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
title_fullStr On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
title_full_unstemmed On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
title_sort On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
dc.creator.none.fl_str_mv Sánchez-Bellver, Laura
Toulis, Vasileios
Marfany i Nadal, Gemma
author Sánchez-Bellver, Laura
author_facet Sánchez-Bellver, Laura
Toulis, Vasileios
Marfany i Nadal, Gemma
author_role author
author2 Toulis, Vasileios
Marfany i Nadal, Gemma
author2_role author
author
dc.subject.none.fl_str_mv Ciliats
Malalties de la retina
Ciliata
Retinal diseases
topic Ciliats
Malalties de la retina
Ciliata
Retinal diseases
description Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose cells produce a cilium, such as the retina, cochlea or kidney, are affected by mutations in ciliary-related genes. In the retina, photoreceptor cells present a highly specialized neurosensory cilium, the outer segment, stacked with membranous disks where photoreception and phototransduction occurs. The daily renewal of the more distal disks is a unique characteristic of photoreceptor outer segments, resulting in an elevated protein demand. All components necessary for outer segment formation, maintenance and function have to be transported from the photoreceptor inner segment, where synthesis occurs, to the cilium. Therefore, efficient transport of selected proteins is critical for photoreceptor ciliogenesis and function, and any alteration in either cargo delivery to the cilium or intraciliary trafficking compromises photoreceptor survival and leads to retinal degeneration. To date, mutations in more than 100 ciliary genes have been associated with retinal dystrophies, accounting for almost 25% of these inherited rare diseases. Interestingly, not all mutations in ciliary genes that cause retinal degeneration are also involved in pleiotropic pathologies in other ciliated organs. Depending on the mutation, the same gene can cause syndromic or non-syndromic retinopathies, thus emphasizing the highly refined specialization of the photoreceptor neurosensory cilia, and raising the possibility of photoreceptor-specific molecular mechanisms underlying common ciliary functions such as ciliary transport. In this review, we will focus on ciliary transport in photoreceptor cells and discuss the molecular complexity underpinning retinal ciliopathies, with a special emphasis on ciliary genes that, when mutated, cause either syndromic or non-syndromic retinal ciliopathies.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/176853
url https://hdl.handle.net/2445/176853
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3389/fcell.2021.623734
Frontiers In Cell And Developmental Biology, 2021, vol. 9, num. 623734
https://doi.org/10.3389/fcell.2021.623734
dc.rights.none.fl_str_mv cc-by (c) Sánchez Bellver, Laura et al., 2021
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Sánchez Bellver, Laura et al., 2021
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 25 p.
application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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