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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
Mohd Fazirul Mustafa1, Sharida Fakurazi1, Maizaton Atmadini Abdullah2,3
1Department of Human Anatomy, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 UPM Serdang, Selangor Darul Ehsan, Malaysia.
Abstract:
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.
Insights
Mitochondrial DNA disorders are common inherited diseases caused by mutations in mitochondrial DNA. While treatments are often palliative, recent advances in diagnostics and interventions offer new hope for patients.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Mitochondria generate energy via oxidative phosphorylation, producing reactive oxygen species that damage their unique genomes.
- High mutation rates in mitochondrial DNA lead to mitochondrial DNA disorders, a common class of inherited human diseases.
- Current treatments for mitochondrial diseases are largely palliative, highlighting the need for improved therapeutic strategies.
Purpose of the Study:
- To review common mitochondrial DNA disorders.
- To outline key advances in mitochondrial disease intervention over the past decade.
- To enhance understanding of pathogenesis and genetic changes in mitochondrial DNA diseases.
Main Methods:
- Review of scientific literature on mitochondrial DNA disorders and interventions.
- Analysis of recent advancements in diagnostic technologies for molecular diagnosis.
- Examination of therapeutic approaches including mitochondrial transfer and genetic modification.
Main Results:
- Mitochondrial DNA disorders are prevalent inherited diseases with significant unmet therapeutic needs.
- Diagnostic technologies have advanced, improving molecular diagnosis and offering insights into disease mechanisms.
- Key advances in the last decade focus on mitochondrial genome modification and cell-based therapies.
Conclusions:
- Despite progress, effective treatments for mitochondrial DNA disorders remain limited.
- Improved diagnostics provide new insights into disease pathogenesis.
- Future therapeutic strategies may involve novel interventions targeting the mitochondrial genome and cellular repair mechanisms.
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