Abstract
Mitochondria are independent organelles with their own DNA. As a primary function, mitochondria produce the energy for the cell through Oxidative Phosphorylation (OXPHOS) in the Electron Transport Chain (ETC). One of the toxic products of this process is Reactive Oxygen Species (ROS), which can induce oxidative damage in macromolecules like lipids, proteins and DNA. Mitochondrial DNA (mtDNA) is less protected and has fewer reparation mechanisms than nuclear DNA (nDNA), and as such is more exposed to oxidative, mutation-inducing damage. This review analyzes the causes and consequences of mtDNA mutations and their relationship with the aging process. Neurodegenerative diseases, related with the aging, are consequences of mtDNA mutations resulting in a decrease in mitochondrial function. Also described are "mitochondrial diseases", pathologies produced by mtDNA mutations and whose symptoms are related with mitochondrial dysfunction. Finally, mtDNA haplogroups are defined in this review; these groups are important for determination of geographical origin of an individual. Additionally, different haplogroups exhibit variably longevity and risk of certain diseases. mtDNA mutations in aging and haplogroups are of special interest to forensic science research. Therefore this review will help to clarify the key role of mtDNA mutations in these processes and support further research in this area.
Highlights
Mitochondria biologyMitochondria are organelles that evolved from an ancient endosymbiotic purpurbacteria engulfed by an eukaryotic ancestor approximately 1.5 billion years ago [1]
Mitochondria are independent organelles with their own DNA
The most vital function of the mitochondria is their role in cellular energy metabolism because they generate the majority of the cells supply of ATP (Adenosin triphosphate) [4, 5]
Summary
Mitochondria are organelles that evolved from an ancient endosymbiotic purpurbacteria engulfed by an eukaryotic ancestor approximately 1.5 billion years ago [1]. Due to this origin, mitochondria have a double-membrane structure, consisting of an outer membrane, highly permeable with many pores surrounding the intermembrane space, and an inner membrane, which is impermeable and delimits the internal matrix (Figure 1) [2, 3]. They play a role in intracellular signaling and apoptosis, intermediary metabolism, and in the metabolism of amino acids, lipids, cholesterol, steroids, and nucleotides. The most vital function of the mitochondria is their role in cellular energy metabolism because they generate the majority of the cells supply of ATP (Adenosin triphosphate) [4, 5]
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