Energy production in eukaryotic cells takes place inside mitochondria, small organelles of bacterial origin specialised in ATP production. Defects in the mitochondrial RNA processing can impair mitochondrial function and consequently energy production. In humans this can lead to severe diseases or predispose to higher risk to develop pathological conditions with age. In this thesis I investigated the effects of altered mitochondrial RNA processing in vivo and its consequences on health. This will contribute to closing the gap in knowledge between the identification of genetic mutations and the manifestation of mitochondrial diseases, which is fundamental to develop effective treatments for these pathologies.
|Qualification||Doctor of Philosophy|
|Award date||15 May 2020|
|Publication status||Unpublished - 2020|
- Embargoed from 25/05/2020 to 25/05/2022. Made publicly available on 25/05/2022.