Academy Professor Anu Wartiovaara and her research group are investigating why mitochondrial dysfunction manifests so differently across individuals – and how it might be influenced.
Mitochondria, which are found within our cells, regulate metabolism, meaning the way cells use and store energy. This affects almost everything in the body. As a result, even minor defects in mitochondrial function can lead to severe metabolic diseases.
Although mitochondrial diseases are serious, they are also difficult to understand. Even when the disease-causing genetic variant is the same, it may manifest as Parkinson’s disease in one patient, epilepsy in another, and heart disease or muscle weakness in a third.
“The fundamental question in our research is how a genetic variant that affects mitochondrial function ultimately affects the body ,” says Anu Wartiovaara, Professor of Clinical Molecular Medicine at the University of Helsinki.
The number of variables is vast. The different ways in which a genetic variant manifests itself may be influenced by factors such as nutrition, the environment, the patient’s age, other genetic variants , or some combination of these.
As a result, understanding the mechanisms of mitochondrial diseases requires enormous amounts of data and substantial computing capacity.
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ELIXIR is partly funded by the European Commission