Abstract
Mitochondria are cytoplasmic organelles essential for energy metabolism of eukaryotic cells and characterised by the presence of their own DNA molecule, known as mitochondrial DNA (mtDNA). Complete sequencing of the mitochondrial genome, 16,569 bp in humans, shed light onto a wide series of new biomedical applications, including personal identification, pathology diagnosis, population studies, species identification and detection of biological contaminants in environmental samples. To present the principles of mitochondrion biology and the most recent applications of its genome analysis, authors report the current hypothesis on mitochondria origin and evolution, their role in the pathogenesis and maternal inheritance of human diseases, and mtDNA sequencing procedures. In light of these recent findings, mtDNA analysis seems to be not only a fascinating topic with extraordinary scientific interest, but it also represents a useful tool with unexpected advantages and unforeseen possible applications in several fields of public health.