Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases

<b>Background:</b> Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important f...

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Main Authors: Luis Sendra, Alfredo García-Mares, María José Herrero, Salvador F. Aliño
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/22/2/551
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author Luis Sendra
Alfredo García-Mares
María José Herrero
Salvador F. Aliño
author_facet Luis Sendra
Alfredo García-Mares
María José Herrero
Salvador F. Aliño
author_sort Luis Sendra
collection DOAJ
description <b>Background:</b> Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. <b>Methods:</b> A bibliographic review was performed on the MEDLINE and Web of Science databases, along with searches for related clinical trials and news. <b>Results:</b> A total of 48 publications were included for review. Five MRT procedures were identified and their efficacy was compared. Three main risks associated with MRTs were discussed, and the ethical views and legal position of MRTs were reviewed. <b>Conclusions:</b> MRTs are an effective approach to minimizing the risk of transmitting mtDNA diseases, but they do not remove it entirely. Global legal regulation of MRTs is required.
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spelling doaj.art-9b596620ee0f4f19a4a93084e691cf2e2023-12-03T12:24:02ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-01-0122255110.3390/ijms22020551Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial DiseasesLuis Sendra0Alfredo García-Mares1María José Herrero2Salvador F. Aliño3Unidad de Farmacogenética, Instituto de Investigación Sanitaria La Fe, 46026 Valencia, SpainDepartamento de Farmacología, Facultad de Medicina, Universidad de Valencia, 46010 Valencia, SpainUnidad de Farmacogenética, Instituto de Investigación Sanitaria La Fe, 46026 Valencia, SpainUnidad de Farmacogenética, Instituto de Investigación Sanitaria La Fe, 46026 Valencia, Spain<b>Background:</b> Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. <b>Methods:</b> A bibliographic review was performed on the MEDLINE and Web of Science databases, along with searches for related clinical trials and news. <b>Results:</b> A total of 48 publications were included for review. Five MRT procedures were identified and their efficacy was compared. Three main risks associated with MRTs were discussed, and the ethical views and legal position of MRTs were reviewed. <b>Conclusions:</b> MRTs are an effective approach to minimizing the risk of transmitting mtDNA diseases, but they do not remove it entirely. Global legal regulation of MRTs is required.https://www.mdpi.com/1422-0067/22/2/551mitochondrial diseasesmitochondrial DNAmitochondrial replacementmitochondrial donationthree-parent baby
spellingShingle Luis Sendra
Alfredo García-Mares
María José Herrero
Salvador F. Aliño
Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
International Journal of Molecular Sciences
mitochondrial diseases
mitochondrial DNA
mitochondrial replacement
mitochondrial donation
three-parent baby
title Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
title_full Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
title_fullStr Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
title_full_unstemmed Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
title_short Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
title_sort mitochondrial dna replacement techniques to prevent human mitochondrial diseases
topic mitochondrial diseases
mitochondrial DNA
mitochondrial replacement
mitochondrial donation
three-parent baby
url https://www.mdpi.com/1422-0067/22/2/551
work_keys_str_mv AT luissendra mitochondrialdnareplacementtechniquestopreventhumanmitochondrialdiseases
AT alfredogarciamares mitochondrialdnareplacementtechniquestopreventhumanmitochondrialdiseases
AT mariajoseherrero mitochondrialdnareplacementtechniquestopreventhumanmitochondrialdiseases
AT salvadorfalino mitochondrialdnareplacementtechniquestopreventhumanmitochondrialdiseases