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Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions

Mitochondria are best known for their role in energy production, and they are the only mammalian organelles that contain their own genomes. The mitochondrial genome mutation rate is reported to be 10–17 times higher compared to nuclear genomes as a result of oxidative damage caused by reactive oxyge...

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Autores principales: Mustafa, Mohd Fazirul, Fakurazi, Sharida, Abdullah, Maizaton Atmadini, Maniam, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074468/
https://www.ncbi.nlm.nih.gov/pubmed/32059522
http://dx.doi.org/10.3390/genes11020192
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author Mustafa, Mohd Fazirul
Fakurazi, Sharida
Abdullah, Maizaton Atmadini
Maniam, Sandra
author_facet Mustafa, Mohd Fazirul
Fakurazi, Sharida
Abdullah, Maizaton Atmadini
Maniam, Sandra
author_sort Mustafa, Mohd Fazirul
collection PubMed
description Mitochondria are best known for their role in energy production, and they are the only mammalian organelles that contain their own genomes. The mitochondrial genome mutation rate is reported to be 10–17 times higher compared to nuclear genomes as a result of oxidative damage caused by reactive oxygen species during oxidative phosphorylation. Pathogenic mitochondrial DNA mutations result in mitochondrial DNA disorders, which are among the most common inherited human diseases. Interventions of mitochondrial DNA disorders involve either the transfer of viable isolated mitochondria to recipient cells or genetically modifying the mitochondrial genome to improve therapeutic outcome. This review outlines the common mitochondrial DNA disorders and the key advances in the past decade necessary to improve the current knowledge on mitochondrial disease intervention. Although it is now 31 years since the first description of patients with pathogenic mitochondrial DNA was reported, the treatment for mitochondrial disease is often inadequate and mostly palliative. Advancements in diagnostic technology improved the molecular diagnosis of previously unresolved cases, and they provide new insight into the pathogenesis and genetic changes in mitochondrial DNA diseases.
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spelling pubmed-70744682020-03-20 Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions Mustafa, Mohd Fazirul Fakurazi, Sharida Abdullah, Maizaton Atmadini Maniam, Sandra Genes (Basel) Review Mitochondria are best known for their role in energy production, and they are the only mammalian organelles that contain their own genomes. The mitochondrial genome mutation rate is reported to be 10–17 times higher compared to nuclear genomes as a result of oxidative damage caused by reactive oxygen species during oxidative phosphorylation. Pathogenic mitochondrial DNA mutations result in mitochondrial DNA disorders, which are among the most common inherited human diseases. Interventions of mitochondrial DNA disorders involve either the transfer of viable isolated mitochondria to recipient cells or genetically modifying the mitochondrial genome to improve therapeutic outcome. This review outlines the common mitochondrial DNA disorders and the key advances in the past decade necessary to improve the current knowledge on mitochondrial disease intervention. Although it is now 31 years since the first description of patients with pathogenic mitochondrial DNA was reported, the treatment for mitochondrial disease is often inadequate and mostly palliative. Advancements in diagnostic technology improved the molecular diagnosis of previously unresolved cases, and they provide new insight into the pathogenesis and genetic changes in mitochondrial DNA diseases. MDPI 2020-02-12 /pmc/articles/PMC7074468/ /pubmed/32059522 http://dx.doi.org/10.3390/genes11020192 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Mustafa, Mohd Fazirul
Fakurazi, Sharida
Abdullah, Maizaton Atmadini
Maniam, Sandra
Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
title Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
title_full Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
title_fullStr Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
title_full_unstemmed Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
title_short Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
title_sort pathogenic mitochondria dna mutations: current detection tools and interventions
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074468/
https://www.ncbi.nlm.nih.gov/pubmed/32059522
http://dx.doi.org/10.3390/genes11020192
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