Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives

Preprint pendiente de publicación.

Bibliographic Details
Authors: Reguera Cabezas, Marta, Martínez Pastor, Felipe, Soriano Úbeda, Cristina de las Mercedes
Format: article
Status:Versión enviada para evaluación y publicación
Publication Date:2025
Country:España
Institution:Universidad de León
Repository:BULERIA. Repositorio Institucional de la Universidad de León
OAI Identifier:oai:buleria.unileon.es:10612/25012
Online Access:https://hdl.handle.net/10612/25012
Access Level:Open access
Keyword:Veterinaria
Assisted Reproduction
Genetics
Heteroplasmy
Mitochondrial Diseases
Mitochondrial Replacement
3109 Ciencias Veterinarias
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network_acronym_str ES
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repository_id_str
spelling Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternativesReguera Cabezas, MartaMartínez Pastor, FelipeSoriano Úbeda, Cristina de las MercedesVeterinariaAssisted ReproductionGeneticsHeteroplasmyMitochondrial DiseasesMitochondrial Replacement3109 Ciencias VeterinariasPreprint pendiente de publicación.[EN] This paper aims to analyse the strategies for preventing or reducing the transmission of diseases caused by pathogenic variants in mitochondrial DNA (mtDNA). Among them, we will focus on prenatal diagnosis, preimplantation genetic testing, gene editing techniques, other molecular tools, and some heterologous mitochondrial replacement techniques (MRT), explaining their status and the uncertainties in their clinical application. After this analysis and review, we recognise the limitations in the efficacy of prenatal and preimplantation genetic diagnoses in mitochondrial DNA pathogenic variants, the legal constraints of gene editing, and mitochondrial replacement techniques. We conclude that MRT are the safest and most effective alternative for preventing diseases caused by mitochondrial DNA pathogenic variants.SIElsevierMedicina y Cirugia AnimalFacultad de Veterinaria2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/submittedVersionhttps://hdl.handle.net/10612/25012reponame:BULERIA. Repositorio Institucional de la Universidad de Leóninstname:Universidad de LeónIngléshttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:buleria.unileon.es:10612/250122026-06-24T12:43:27Z
dc.title.none.fl_str_mv Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
title Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
spellingShingle Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
Reguera Cabezas, Marta
Veterinaria
Assisted Reproduction
Genetics
Heteroplasmy
Mitochondrial Diseases
Mitochondrial Replacement
3109 Ciencias Veterinarias
title_short Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
title_full Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
title_fullStr Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
title_full_unstemmed Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
title_sort Current state of the art in the prevention of transmission of mitochondrial DNA pathogenic variants: reviewing therapeutic-preventive alternatives
dc.creator.none.fl_str_mv Reguera Cabezas, Marta
Martínez Pastor, Felipe
Soriano Úbeda, Cristina de las Mercedes
author Reguera Cabezas, Marta
author_facet Reguera Cabezas, Marta
Martínez Pastor, Felipe
Soriano Úbeda, Cristina de las Mercedes
author_role author
author2 Martínez Pastor, Felipe
Soriano Úbeda, Cristina de las Mercedes
author2_role author
author
dc.contributor.none.fl_str_mv Medicina y Cirugia Animal
Facultad de Veterinaria
dc.subject.none.fl_str_mv Veterinaria
Assisted Reproduction
Genetics
Heteroplasmy
Mitochondrial Diseases
Mitochondrial Replacement
3109 Ciencias Veterinarias
topic Veterinaria
Assisted Reproduction
Genetics
Heteroplasmy
Mitochondrial Diseases
Mitochondrial Replacement
3109 Ciencias Veterinarias
description Preprint pendiente de publicación.
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/submittedVersion
format article
status_str submittedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/10612/25012
url https://hdl.handle.net/10612/25012
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:BULERIA. Repositorio Institucional de la Universidad de León
instname:Universidad de León
instname_str Universidad de León
reponame_str BULERIA. Repositorio Institucional de la Universidad de León
collection BULERIA. Repositorio Institucional de la Universidad de León
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869406480961110016
score 15,811543

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