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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI
2020
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| Online Access: | http://psasir.upm.edu.my/id/eprint/38157/ http://psasir.upm.edu.my/id/eprint/38157/1/38157.pdf |
| _version_ | 1848848800972537856 |
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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 |
| building | UPM Institutional Repository |
| collection | Online Access |
| 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. |
| first_indexed | 2025-11-15T09:40:16Z |
| format | Article |
| id | upm-38157 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T09:40:16Z |
| publishDate | 2020 |
| publisher | MDPI |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-381572020-05-03T23:00:14Z http://psasir.upm.edu.my/id/eprint/38157/ Pathogenic mitochondria DNA mutations: current detection tools and interventions Mustafa, Mohd Fazirul Fakurazi, Sharida Abdullah, Maizaton Atmadini Maniam, Sandra 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 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/38157/1/38157.pdf Mustafa, Mohd Fazirul and Fakurazi, Sharida and Abdullah, Maizaton Atmadini and Maniam, Sandra (2020) Pathogenic mitochondria DNA mutations: current detection tools and interventions. Genes, 11 (2). art. no. 192. pp. 1-13. ISSN 2073-4425 https://www.mdpi.com/2073-4425/11/2/192 10.3390/genes11020192 |
| spellingShingle | 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 |
| url | http://psasir.upm.edu.my/id/eprint/38157/ http://psasir.upm.edu.my/id/eprint/38157/ http://psasir.upm.edu.my/id/eprint/38157/ http://psasir.upm.edu.my/id/eprint/38157/1/38157.pdf |