Defects of the mitochondrial respiratory chain and mutations of mitochondrial DNA have now been associated with a wide range of human diseases. The precise pathogenetic mechanisms by which these biochemical abnormalities induce tissue dysfunction are not understood. The identification of a mutation in the proline anticodon and in the 12S RNA genes of mitochondrial DNA are interesting new additions to the catalogue of pathogenetic mutations of this genome. The recent demonstration of nuclear complementation of mitochondrial DNA depletion provides the opportunity to identify nuclear genes involved in mitochondrial DNA replication. The possible role for mitochondrial deficiencies in certain neurodegenerative diseases and in the ageing process have given additional momentum to research in this area. Treatment for the mitochondrial 'cytopathies' remains disappointing and improvement in this area awaits a better understanding of their aetiology.
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