Mitochondrial diseases are some of the most common inherited metabolic disorders. They typically arise from primary defects in oxidative phosphorylation (OXPHOS), affecting tissues with high energetic demand such as the brain, liver and cardiac and skeletal muscle. However, their presentation is not uniform between patients or between organs, with the same monogenic mutation resulting in pathologies as diverse as severe multisystem disorder or mild adult-onset muscle weakness. Why this is the case is still poorly understood. At the moment there are no effective treatment options for any of these devastating diseases.

Recent discoveries have established ferroptosis as a potential contributor in mitochondrial diseases. Mitochondrial OXPHOS defects impair cellular redox balance and metabolic fitness, and can render different tissues susceptible to ferroptosis. Mitochondrial stress signalling cascades provide protection against ferroptosis and are emerging as important adaptive, prosurvival mechanisms.

My research aims to characterise the tissue specific stress signaling in mitochondrial dysfunction and study the metabolic outcome and pro-survival function of these stress responses. I am currently using different tissue specific cell culture models as well as in vivo models to better understand the disease mechanisms in mitochondrial diseases with the ultimate goal to develop new therapy options for the patients.

Sofia Ahola graduated with an MSc in Biosciences from the University of Helsinki, Finland with the study focus on genetics, physiology and biochemistry. She completed her PhD in Medical Faculty of the University of Finland under the supervision of Professor Anu Suomalainen. During her PhD, Sofia investigated the molecular mechanisms of mitochondrial late onset myopathies such as progressive external ophthalmoplegia (PEO) developing therapy options for them. She also worked on genetic diagnostics on childhood onset cardiomyopathies.

Sofia was awarded with Finnish Cultural Foundation Fellowship (2015) and Alexander von Humboldt Foundation Fellowship (2016) and joined a research group of Professor Thomas Langer in CECAD, Cluster of Excellence for Ageing Research, and later in the Max Planck Institute of Biology of Ageing, Cologne, Germany. She did her postdoctoral work investigating the role of mitochondrial stress activated protease OMA1 in childhood onset mitochondrial cardiomyopathy unravelling the role of OMA1-mediated integrated stress responses in protecting the cardiomyocytes from ferroptotic cell death. She also worked on understanding the physiological role of processing of the mitochondrial inner membrane fusion protein OPA1. She was able to show that OPA1 processing is dispensable for normal development and growth of a mouse but has a protective role in mitochondrial cardiomyopathy by allowing the hypertrophic growth of the heart.

Sofia Ahola was recruited to University of Birmingham in 2024 to establish her own research group to work on understanding the tissue specific stress signalling and metabolism in mitochondrial dysfunction.

• PhD, Medical Faculty, University of Helsinki, Finland (2014)
• MSc in Biosciences, University of Helsinki, Finland (2008)