Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations

Mitochondrial DNA (mtDNA) heteroplasmy complicates genetic analyses due to its variability across individuals and tissues. We analyzed over 400 Spanish blood samples and integrated published Massively Parallel Sequencing (MPS) data from ten additional European tissues. Heteroplasmy was tissue-specif...

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Autores: Cuesta-Aguirre, Daniel R.|||0000-0001-7483-8541, Onieva, Ana|||0000-0002-5098-543X, Aluja, Maria Pilar|||0000-0002-0407-9356, Santos, Cristina|||0000-0002-7014-8014
Tipo de recurso: artículo
Fecha de publicación:2026
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:326493
Acceso en línea:https://ddd.uab.cat/record/326493
https://dx.doi.org/urn:doi:10.1016/j.mito.2026.102117
Access Level:acceso abierto
Palabra clave:Heteroplasmic profile
Heteroplasmy
Massively Parallel Sequencing (MPS)
Mitochondrial DNA (mtDNA)
Point heteroplasmy
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spelling Probability of Mitochondrial DNA heteroplasmy in different tissues from European populationsCuesta-Aguirre, Daniel R.|||0000-0001-7483-8541Onieva, Ana|||0000-0002-5098-543XAluja, Maria Pilar|||0000-0002-0407-9356Santos, Cristina|||0000-0002-7014-8014Heteroplasmic profileHeteroplasmyMassively Parallel Sequencing (MPS)Mitochondrial DNA (mtDNA)Point heteroplasmyMitochondrial DNA (mtDNA) heteroplasmy complicates genetic analyses due to its variability across individuals and tissues. We analyzed over 400 Spanish blood samples and integrated published Massively Parallel Sequencing (MPS) data from ten additional European tissues. Heteroplasmy was tissue-specific, with skeletal muscle, kidney, and liver showing the highest levels, while the intestines, skin, and cerebellum had the lowest. Blood uniquely displayed more heteroplasmies in coding than non-coding regions. Several conserved positions not previously described as hotspots showed high frequencies. These results establish the first comprehensive tissue-specific heteroplasmic profile of the complete mitochondrial genome in a European population, improving the interpretation of mtDNA variation in forensic and biomedical contexts. 22026-01-0120262026-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/326493https://dx.doi.org/urn:doi:10.1016/j.mito.2026.102117reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengGeneralitat de Catalunya https://doi.org/10.13039/501100002809 2021/SGR-00186open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3264932026-06-06T12:50:31Z
dc.title.none.fl_str_mv Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
title Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
spellingShingle Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
Cuesta-Aguirre, Daniel R.|||0000-0001-7483-8541
Heteroplasmic profile
Heteroplasmy
Massively Parallel Sequencing (MPS)
Mitochondrial DNA (mtDNA)
Point heteroplasmy
title_short Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
title_full Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
title_fullStr Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
title_full_unstemmed Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
title_sort Probability of Mitochondrial DNA heteroplasmy in different tissues from European populations
dc.creator.none.fl_str_mv Cuesta-Aguirre, Daniel R.|||0000-0001-7483-8541
Onieva, Ana|||0000-0002-5098-543X
Aluja, Maria Pilar|||0000-0002-0407-9356
Santos, Cristina|||0000-0002-7014-8014
author Cuesta-Aguirre, Daniel R.|||0000-0001-7483-8541
author_facet Cuesta-Aguirre, Daniel R.|||0000-0001-7483-8541
Onieva, Ana|||0000-0002-5098-543X
Aluja, Maria Pilar|||0000-0002-0407-9356
Santos, Cristina|||0000-0002-7014-8014
author_role author
author2 Onieva, Ana|||0000-0002-5098-543X
Aluja, Maria Pilar|||0000-0002-0407-9356
Santos, Cristina|||0000-0002-7014-8014
author2_role author
author
author
dc.subject.none.fl_str_mv Heteroplasmic profile
Heteroplasmy
Massively Parallel Sequencing (MPS)
Mitochondrial DNA (mtDNA)
Point heteroplasmy
topic Heteroplasmic profile
Heteroplasmy
Massively Parallel Sequencing (MPS)
Mitochondrial DNA (mtDNA)
Point heteroplasmy
description Mitochondrial DNA (mtDNA) heteroplasmy complicates genetic analyses due to its variability across individuals and tissues. We analyzed over 400 Spanish blood samples and integrated published Massively Parallel Sequencing (MPS) data from ten additional European tissues. Heteroplasmy was tissue-specific, with skeletal muscle, kidney, and liver showing the highest levels, while the intestines, skin, and cerebellum had the lowest. Blood uniquely displayed more heteroplasmies in coding than non-coding regions. Several conserved positions not previously described as hotspots showed high frequencies. These results establish the first comprehensive tissue-specific heteroplasmic profile of the complete mitochondrial genome in a European population, improving the interpretation of mtDNA variation in forensic and biomedical contexts.
publishDate 2026
dc.date.none.fl_str_mv 2
2026-01-01
2026
2026-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/326493
https://dx.doi.org/urn:doi:10.1016/j.mito.2026.102117
url https://ddd.uab.cat/record/326493
https://dx.doi.org/urn:doi:10.1016/j.mito.2026.102117
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Generalitat de Catalunya https://doi.org/10.13039/501100002809 2021/SGR-00186
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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