Newly appointed Academy Professor Anu Wartiovaara is a pioneer of research on mitochondrial diseases

Disturbances in mitochondrial metabolism cause a range of serious diseases. By understanding cell function, new therapies can be developed for diseases that have so far been considered incurable.

The Academy of Finland has appointed Professor of Clinical Molecular Medicine Anu Suomalainen-Wartiovaara from the University of Helsinki as an Academy Professor for the term 1 September 2021–31 August 2026. This is Wartiovaara’s second term as Academy Professor. Wartiovaara’s research group investigates the metabolism of mitochondria and its effects on the health and diseases of the nervous system.

Mitochondria are central for cell functions. Serving as cellular ‘power plants’, they transform the energy of nutrients into a form that cells are able to utilise. They also generate building blocks needed by cells and contribute to cell differentiation, signalling, growth and repair.

Mitochondrial diseases are caused by gene defects which hamper mitochondrial function. Such functional disturbances can cause a wide range of progressive diseases from heart and brain diseases, manifesting in any time of life. From infantile brain, heart or muscle disease to juvenile epilepsy, adult-onset muscle weakness or early-onset Parkinson’s disease. These diseases have no curative therapies, and they are as common as paediatric cancers. Mitochondrial dysfunction also contributes to common degenerative diseases of the brain, cancer and the cellular ageing process.

“My mission is to use our detailed molecular knowledge to find cure for previously incurable diseases. My research group focuses on the questions how mitochondrial and metabolic stress manifests as different disease states. We design disease models, identify mechanisms behind diseases and utilise these models and this knowledge to develop diagnostics and targeted therapies.”

Targeted therapies fix disturbances of cell metabolism

Wartiovaara’s research group has conducted pioneering research for example into the molecular background of mitochondrial myopathy, a muscle disease. The researchers found that the disease permanently switches the muscle metabolism into repair mode which, when chronic, makes the disease progress. They came up with the idea of experimenting with a regulatory molecule called NAD, the precursor of which is vitamin B3. They used niacin, a vitamin B3 form, to treat patients with mitochondrial myopathy. Remarkably, niacin reverted the metabolism back towards normal and improved muscle and liver functions. The findings are a significant step in the effort to develop targeted therapies for mitochondrial diseases.

At the moment, the group is focused on understanding mitochondrial mechanisms underlying brain diseases. The results have turned the researchers’ interest in the cooperation between metabolism and the immune system.

“This is a very topical research subject, as it can provide information on previously unknown connections between metabolism and viral infections,” Wartiovaara says.

Basic research is a prerequisite for scientific breakthroughs

At times, a therapeutic solution as simple as niacin can be identified for an incurable disease.

“However, we could not have foreseen such a solution. Instead, more than 10 years of step-wise biomedical research was required to make the discovery,” Wartiovaara notes.

The work involved for example the design of disease models, development of methods, analyses of tissue metabolites on the molecular level, treatment trials in disease models and, ultimately, a clinical pilot trial.

“Now our findings also appear to have broader relevance outside mitochondrial diseases,” Wartiovaara says, “which is exciting!”.

Long-term competitive funding forms, such as Academy Professorships, are prerequisite or mechanistic studies of a high international standard.

“And yet, funding for basic and biomedical research in Finland has constantly declined. This year, only one Academy Professor was appointed in the field of biomedicine or clinical medicine, with several brilliant researchers left without funding. Innovative basic research - discovery science - uncovers things previously unknown and is a prerequisite for genuine breakthroughs,” Wartiovaara points out.

Familiarise yourself with the work of Anu Wartiovaara’s research group on the group’s website.

Read more about niacin in treating mitochondrial myopathy in a University of Helsinki release.