Journal of Genomics and Precision Medicine
Mitochondrial Genomics
Mitochondrial genomics focuses on the structure, function, variation, and inheritance of mitochondrial DNA (mtDNA), which plays a critical role in cellular energy production and metabolic regulation. Unlike nuclear DNA, mtDNA is maternally inherited and evolves rapidly, making it a powerful tool for studying population history, evolutionary biology, and disease mechanisms. Mutations in mitochondrial genes can impair oxidative phosphorylation, leading to a wide range of disorders affecting high-energy organs such as the brain, heart, and muscles. Mitochondrial genomics also contributes to understanding aging, neurodegeneration, metabolic syndromes, and cancer progression. Advances in sequencing technologies enable precise detection of mtDNA heteroplasmy—variations in mutation levels across cells—which is essential for accurate diagnosis and disease monitoring.
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