Impact of the 25th chromosome on mitochondrial dysfunction in human disease

Human mitochondrial DNA, the 25th chromosome, is a 16 569 base pair long circular molecule, that encoders a variety of genes for the translational machinery of the mitochondrion, as well as 13 structural proteins, that are all subunits of the respiratory chain (RC). A variety of alterations of mitochondrial DNA (mtDNA) are now functionally and genetically linked to human disease, including encephalomyopathies, Leber's hereditary optic neuropathy, diabetes mellitus, some neurogenerative diseases and even ageing. The mitochondrial encephalomyopathies are a clinically, biochemically and genetically heterogeneous group of disorders. Alterations of mtDNA include point mutations, encephalomyopathies, as well as in the other human diseases, are reviewd.