Hernández De La Fuente, Candelaria Lucía2024-02-022024-02-022023Hernández CL. Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era. Genes (Basel). 2023 Jul 27;14(8):1534.10.3390/genes14081534https://hdl.handle.net/20.500.14352/98048Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival of high- throughput studies. Several appealing properties justify the application of mtDNA to understand how human populations are—from a genetic perspective—and how individuals exhibit phenotypes of biomedical importance. Here, I review the basics of mitochondrial studies with a focus on the dawn of the field, analysis methods and the connection between two sides of mitochondrial genetics: anthropological and biomedical. The particularities of mtDNA, with respect to inheritance pattern, evolutionary rate and dependence on the nuclear genome, explain the challenges of associating mtDNA composition and diseases. Finally, I consider the relevance of this single locus in the context of omics research. The present work may serve as a tribute to a tool that has provided important insights into the past and present of humankind.engAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/journal articlehttps://doi.org/10.3390/genes14081534https://pubmed.ncbi.nlm.nih.gov/37628587/open access572aDNAAgingDiseasesForensicsHaplogroupHuman population geneticsLongevityMitogenomePhylogenyPhylogeographyBiología2402 Antropología (Física)