Evaluation of mtDNA Mutations to Predict Age

Ageing is a predictable, universal and detrimental process in humans. The ‘mitochondrial theory of ageing’ implies that the accumulation of mitochondrial DNA mutations, and the subsequent cytoplasmic segregation of these mutations during life, is an important contributor to the ageing process. Mitochondria have a separate autonomously replicating DNA genome and are maternally inherited. Previous research has identified accumulation of mutations in the ‘hypervariable regions’ (1 and 2) of the mitochondrial genome with age. In this study we analysed hypervariable region sequence variations within 12 separate families, eleven of three unbroken maternal lineages and one with four maternal lineages (ages 5– 96). Since mitochondria are maternally inherited, any sequence difference between the youngest member of the family compared with the others was considered to be age related. No age related mitochondrial mutations were observed in the 12 families analysed. Therefore, this methodology of direct sequencing of mitochondrial hypervariable regions does not appear to be a useful tool to assist in the prediction of the age of the person from whom a biological sample was collected at a crime scene