Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where...

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Authors: Saldaña-Martínez, A., Muñoz, M.D.L., Pérez-Ramírez, G., Montiel-Sosa, J.F., Montoya, J., Emperador, S., Ruiz-Pesini, E., Cuevas-Covarrubias, S., López-Valdez, J., Ramírez, R.G.
Format: article
Status:Versión aceptada para publicación
Publication Date:2019
Country:España
Institution:Universidad de Zaragoza
Repository:Zaguán. Repositorio Digital de la Universidad de Zaragoza
OAI Identifier:oai:zaguan.unizar.es:86283
Online Access:http://zaguan.unizar.es/record/86283
Access Level:Open access
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spelling Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variantsSaldaña-Martínez, A.Muñoz, M.D.L.Pérez-Ramírez, G.Montiel-Sosa, J.F.Montoya, J.Emperador, S.Ruiz-Pesini, E.Cuevas-Covarrubias, S.López-Valdez, J.Ramírez, R.G.Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease.2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfhttp://zaguan.unizar.es/record/86283reponame:Zaguán. Repositorio Digital de la Universidad de Zaragozainstname:Universidad de ZaragozaInglésinfo:eu-repo/grantAgreement/ES/DGA/FEDERinfo:eu-repo/grantAgreement/ES/ISCIII/PI17-00021info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166info:eu-repo/semantics/openAccessoai:zaguan.unizar.es:862832026-05-29T13:59:51Z
dc.title.none.fl_str_mv Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
title Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
spellingShingle Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
Saldaña-Martínez, A.
title_short Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
title_full Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
title_fullStr Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
title_full_unstemmed Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
title_sort Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
dc.creator.none.fl_str_mv Saldaña-Martínez, A.
Muñoz, M.D.L.
Pérez-Ramírez, G.
Montiel-Sosa, J.F.
Montoya, J.
Emperador, S.
Ruiz-Pesini, E.
Cuevas-Covarrubias, S.
López-Valdez, J.
Ramírez, R.G.
author Saldaña-Martínez, A.
author_facet Saldaña-Martínez, A.
Muñoz, M.D.L.
Pérez-Ramírez, G.
Montiel-Sosa, J.F.
Montoya, J.
Emperador, S.
Ruiz-Pesini, E.
Cuevas-Covarrubias, S.
López-Valdez, J.
Ramírez, R.G.
author_role author
author2 Muñoz, M.D.L.
Pérez-Ramírez, G.
Montiel-Sosa, J.F.
Montoya, J.
Emperador, S.
Ruiz-Pesini, E.
Cuevas-Covarrubias, S.
López-Valdez, J.
Ramírez, R.G.
author2_role author
author
author
author
author
author
author
author
author
description Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease.
publishDate 2019
dc.date.none.fl_str_mv 2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv http://zaguan.unizar.es/record/86283
url http://zaguan.unizar.es/record/86283
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv info:eu-repo/grantAgreement/ES/DGA/FEDER
info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021
info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv
publisher.none.fl_str_mv
dc.source.none.fl_str_mv reponame:Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname:Universidad de Zaragoza
instname_str Universidad de Zaragoza
reponame_str Zaguán. Repositorio Digital de la Universidad de Zaragoza
collection Zaguán. Repositorio Digital de la Universidad de Zaragoza
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301629

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