Marko Kervinen

University of Oulu, Dept of Opthalmology, Northern Mitochondria Clinical Research Centre

Oulu, Finland

Photo of Marko Kervinen


Degeneration and Ageing - the effect of pathogenic mitochondrial mutations


This project addresses the fundamental question of stochastic ageing due to mtDNA mutations, and whether ROS are involved in the process. Even though mitochondria have been shown to be a major site of ROS production and mitochondrial damage have strong association with ageing, no convincing evidence exists about the causal relationship of mtDNA mutations provoking ROS production, leading into DNA and protein damage, and thus producing cellular dysfunction and further ageing.

The main hypothesis is that the human pathogenic mtDNA mutations affecting mitochondrial complex I enzyme resulting in different clinical phenotypes cause divergent consequences in mitochondrial metabolism. To elucidate these changes, the functional genetics approach will be used to reveal the effects of biochemically characterized mitochondrial complex I mutations, modelled in Escherichia coli enzyme.

We have already shown that MELAS-disease associated mutations decrease the amount of assembled enzyme and that the activity of the assembled enzyme is decreased. In the contrary, Leber hereditary optic neuropathy -mutations were found to perturb the interaction of the enzyme with its substrate. We are currently exploring the further consequences of these mutations.


For the latest project poster please see the Documents below


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