Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

Bibliographic Details
Main Author: Iglesias-Romero, Ana Belén
Publication Date: 2024
Other Authors: Kaminska, Karolina, Quinodoz, Mathieu, Folcher, Marc, Lin, Siying, Arno, Gavin, Calado, Joaquim, Webster, Andrew R, Moulin, Alexandre, Sousa, Ana Berta, Coutinho-Santos, Luisa, Santos, Cristina, Rivolta, Carlo
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10362/172717
Summary: Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.
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spelling Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosacoenzyme QCOQ8Binherited retinal diseasesMendelian diseasesretinitis pigmentosaCopyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA changes in COQ8B, a gene involved in the biosynthesis of coenzyme Q10. Specifically, we detected compound heterozygous assortments of five disease-causing variants (c.187C>T [p.Arg63Trp], c.566G>A [p.Trp189Ter], c.1156G>A [p.Asp386Asn], c.1324G>A [p.Val442Met], and c.1560G>A [p.Trp520Ter]), all segregating with disease according to a recessive pattern of inheritance. Cell-based analysis of recombinant proteins deriving from these genotypes, performed by target engagement assays, showed in all cases a significant decrease in ligand-protein interaction compared to the wild type. Our results indicate that variants in COQ8B lead to recessive non-syndromic RP, possibly by impairing the biosynthesis of coenzyme Q10, a key component of oxidative phosphorylation in the mitochondria.Centre for Toxicogenomics and Human Health (ToxOmics)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)iNOVA4Health - pólo NMSRUNIglesias-Romero, Ana BelénKaminska, KarolinaQuinodoz, MathieuFolcher, MarcLin, SiyingArno, GavinCalado, JoaquimWebster, Andrew RMoulin, AlexandreSousa, Ana BertaCoutinho-Santos, LuisaSantos, CristinaRivolta, Carlo2024-09-30T22:30:08Z2024-10-032024-10-03T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/172717eng1537-6605PURE: 99648966https://doi.org/10.1016/j.ajhg.2024.08.005info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-10T01:36:45Zoai:run.unl.pt:10362/172717Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T18:55:18.720858Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
title Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
spellingShingle Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
Iglesias-Romero, Ana Belén
coenzyme Q
COQ8B
inherited retinal diseases
Mendelian diseases
retinitis pigmentosa
title_short Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
title_full Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
title_fullStr Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
title_full_unstemmed Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
title_sort Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
author Iglesias-Romero, Ana Belén
author_facet Iglesias-Romero, Ana Belén
Kaminska, Karolina
Quinodoz, Mathieu
Folcher, Marc
Lin, Siying
Arno, Gavin
Calado, Joaquim
Webster, Andrew R
Moulin, Alexandre
Sousa, Ana Berta
Coutinho-Santos, Luisa
Santos, Cristina
Rivolta, Carlo
author_role author
author2 Kaminska, Karolina
Quinodoz, Mathieu
Folcher, Marc
Lin, Siying
Arno, Gavin
Calado, Joaquim
Webster, Andrew R
Moulin, Alexandre
Sousa, Ana Berta
Coutinho-Santos, Luisa
Santos, Cristina
Rivolta, Carlo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Centre for Toxicogenomics and Human Health (ToxOmics)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
iNOVA4Health - pólo NMS
RUN
dc.contributor.author.fl_str_mv Iglesias-Romero, Ana Belén
Kaminska, Karolina
Quinodoz, Mathieu
Folcher, Marc
Lin, Siying
Arno, Gavin
Calado, Joaquim
Webster, Andrew R
Moulin, Alexandre
Sousa, Ana Berta
Coutinho-Santos, Luisa
Santos, Cristina
Rivolta, Carlo
dc.subject.por.fl_str_mv coenzyme Q
COQ8B
inherited retinal diseases
Mendelian diseases
retinitis pigmentosa
topic coenzyme Q
COQ8B
inherited retinal diseases
Mendelian diseases
retinitis pigmentosa
description Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.
publishDate 2024
dc.date.none.fl_str_mv 2024-09-30T22:30:08Z
2024-10-03
2024-10-03T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/172717
url http://hdl.handle.net/10362/172717
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1537-6605
PURE: 99648966
https://doi.org/10.1016/j.ajhg.2024.08.005
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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