Research
Mitochondrial dysfunctions are a common cause of human inherited disease, with amazing clinical variability, from neonatal fatal multisystem disorders to sudden cardiac disease, diabetes, stroke, neurodegeneration or muscle diseases. Curative therapies are few.
Mitochondrial disorders show a wide variation in individual disease severity and progression. Up to date, only few therapy options are available to a limited number of patients.
The mission of our group is to clarify molecular metabolic basis of mitochondrial diseases and use the knowledge for patient benefit.
The study of mitochondrial diseases in the muscle, brain, liver and heart have led us to ask:
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How mitochondrial dysfunctions affect cellular metabolism locally and systemically.
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Which molecular metabolic sensitivities of tissues or cell types underlie tissue-specific manifestations of mitochondrial diseases - or diseases in general.
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Which kinds of metabolic signaling events inside cells, cell-to-cell, cells to tissues and in whole organism affect disease manifestations.
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What kind of intrinsic or extrinsic triggers can modify age-of-onset or type of disease manifestations.
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How we can use the molecular knowledge of different mitochondrial dysfunctions for patient benefit.
We are especially focusing on mechanistic understanding of mitochondrial DNA replisome proteins (POLG, Twinkle) and the molecular basis of sudden onset in mitochondrial diseases of the heart.
Our group works in close contact with clinical patient care, through excellent collaboration links to child neurology, neurology and pathology departments of University of Helsinki and to hospitals throughout Finland, as well as through our responsibilities in HUSLab mitochondrial disease diagnosis.
Link to the publication list of the Suomalainen-Wartiovaara group: https://researchportal.helsinki.fi/en/persons/anu-suomalainen-wartiovaara/publications