Mitochondrial DNA Mutations and Ageing

Whitehall, JC; Smith, ALM; Greaves, LC

doi:10.1007/978-3-031-21410-3_4

Mitochondrial DNA Mutations and Ageing

Lookup NU author(s): Dr Julia Whitehall, Anna Smith, Professor Laura Greaves ORCiD

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Abstract

© 2023. The Author(s), under exclusive license to Springer Nature Switzerland AG.Mitochondria are subcellular organelles present in most eukaryotic cells which play a significant role in numerous aspects of cell biology. These include carbohydrate and fatty acid metabolism to generate cellular energy through oxidative phosphorylation, apoptosis, cell signalling, haem biosynthesis and reactive oxygen species production. Mitochondrial dysfunction is a feature of many human ageing tissues, and since the discovery that mitochondrial DNA mutations were a major underlying cause of changes in oxidative phosphorylation capacity, it has been proposed that they have a role in human ageing. However, there is still much debate on whether mitochondrial DNA mutations play a causal role in ageing or are simply a consequence of the ageing process. This chapter describes the structure of mammalian mitochondria, and the unique features of mitochondrial genetics, and reviews the current evidence surrounding the role of mitochondrial DNA mutations in the ageing process. It then focusses on more recent discoveries regarding the role of mitochondrial dysfunction in stem cell ageing and age-related inflammation.