Mutation loads in different tissues from six pathogenic mtDNA point mutations

In this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > C in the blood, urine and buccal mucosa of a cohort of 27 subjects. Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mut...

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Autores: O''Callaghan,M. M., Emperador,S., Pineda,M., López-Gallardo,E., Montero,R., Yubero,D., Jou,C., Jimenez-Mallebrera,C., Nascimento,A., Ferrer,I., García-Cazorla,A., Ruiz-Pesini,E., Montoya,J., Artuch,R.
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2015
País:España
Institución:Universidad de Zaragoza
Repositorio:Zaguán. Repositorio Digital de la Universidad de Zaragoza
OAI Identifier:oai:zaguan.unizar.es:150665
Acceso en línea:http://zaguan.unizar.es/record/150665
Access Level:acceso abierto
id ES_22e9c2fa55802ceca32366c705df6949
oai_identifier_str oai:zaguan.unizar.es:150665
network_acronym_str ES
network_name_str España
repository_id_str
spelling Mutation loads in different tissues from six pathogenic mtDNA point mutationsO''Callaghan,M. M.Emperador,S.Pineda,M.López-Gallardo,E.Montero,R.Yubero,D.Jou,C.Jimenez-Mallebrera,C.Nascimento,A.Ferrer,I.García-Cazorla,A.Ruiz-Pesini,E.Montoya,J.Artuch,R.In this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > C in the blood, urine and buccal mucosa of a cohort of 27 subjects. Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mutation loads in the blood, urine and the buccal mucosa were significantly higher in the mitochondrial disorder group that manifested clinical signs than in the asymptomatic subjects. In conclusion, urine is a suitable biological sample for molecular diagnosis of mtDNA mutations and for the study of the attendant risk of recurrence in the offspring of asymptomatic mothers identified as non-carriers after mutation analysis in blood.2015info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfhttp://zaguan.unizar.es/record/150665reponame:Zaguán. Repositorio Digital de la Universidad de Zaragozainstname:Universidad de ZaragozaInglésinfo:eu-repo/semantics/openAccessoai:zaguan.unizar.es:1506652026-05-29T13:59:51Z
dc.title.none.fl_str_mv Mutation loads in different tissues from six pathogenic mtDNA point mutations
title Mutation loads in different tissues from six pathogenic mtDNA point mutations
spellingShingle Mutation loads in different tissues from six pathogenic mtDNA point mutations
O''Callaghan,M. M.
title_short Mutation loads in different tissues from six pathogenic mtDNA point mutations
title_full Mutation loads in different tissues from six pathogenic mtDNA point mutations
title_fullStr Mutation loads in different tissues from six pathogenic mtDNA point mutations
title_full_unstemmed Mutation loads in different tissues from six pathogenic mtDNA point mutations
title_sort Mutation loads in different tissues from six pathogenic mtDNA point mutations
dc.creator.none.fl_str_mv O''Callaghan,M. M.
Emperador,S.
Pineda,M.
López-Gallardo,E.
Montero,R.
Yubero,D.
Jou,C.
Jimenez-Mallebrera,C.
Nascimento,A.
Ferrer,I.
García-Cazorla,A.
Ruiz-Pesini,E.
Montoya,J.
Artuch,R.
author O''Callaghan,M. M.
author_facet O''Callaghan,M. M.
Emperador,S.
Pineda,M.
López-Gallardo,E.
Montero,R.
Yubero,D.
Jou,C.
Jimenez-Mallebrera,C.
Nascimento,A.
Ferrer,I.
García-Cazorla,A.
Ruiz-Pesini,E.
Montoya,J.
Artuch,R.
author_role author
author2 Emperador,S.
Pineda,M.
López-Gallardo,E.
Montero,R.
Yubero,D.
Jou,C.
Jimenez-Mallebrera,C.
Nascimento,A.
Ferrer,I.
García-Cazorla,A.
Ruiz-Pesini,E.
Montoya,J.
Artuch,R.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
description In this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > C in the blood, urine and buccal mucosa of a cohort of 27 subjects. Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mutation loads in the blood, urine and the buccal mucosa were significantly higher in the mitochondrial disorder group that manifested clinical signs than in the asymptomatic subjects. In conclusion, urine is a suitable biological sample for molecular diagnosis of mtDNA mutations and for the study of the attendant risk of recurrence in the offspring of asymptomatic mothers identified as non-carriers after mutation analysis in blood.
publishDate 2015
dc.date.none.fl_str_mv 2015
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/150665
url http://zaguan.unizar.es/record/150665
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
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 15,811543

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