Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases
Sofia Khan,1 Gulayse Ince-Dunn,2 Anu Suomalainen,2,3,4 and Laura L. Elo1
1Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland.
2Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
3Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland.
4Helsinki University Hospital, HUSlab, Helsinki, Finland.
Address correspondence to: Anu Suomalainen, Biomedicum Helsinki, Stem Cells and Metabolism research program, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. Phone: 358.9.4717.1965; Email: anu.wartiovaara@helsinki.fi.
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1Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland.
2Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
3Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland.
4Helsinki University Hospital, HUSlab, Helsinki, Finland.
Address correspondence to: Anu Suomalainen, Biomedicum Helsinki, Stem Cells and Metabolism research program, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. Phone: 358.9.4717.1965; Email: anu.wartiovaara@helsinki.fi.
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1Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland.
2Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
3Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland.
4Helsinki University Hospital, HUSlab, Helsinki, Finland.
Address correspondence to: Anu Suomalainen, Biomedicum Helsinki, Stem Cells and Metabolism research program, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. Phone: 358.9.4717.1965; Email: anu.wartiovaara@helsinki.fi.
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Suomalainen, A.
in:
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1Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland.
2Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
3Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland.
4Helsinki University Hospital, HUSlab, Helsinki, Finland.
Address correspondence to: Anu Suomalainen, Biomedicum Helsinki, Stem Cells and Metabolism research program, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. Phone: 358.9.4717.1965; Email: anu.wartiovaara@helsinki.fi.
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First published January 2, 2020 - More info
J Clin Invest. 2020;130(1):20–28. https://doi.org/10.1172/JCI129202.
© 2020 American Society for Clinical Investigation
High-throughput technologies for genomics, transcriptomics, proteomics, and metabolomics, and integrative analysis of these data, enable new, systems-level insights into disease pathogenesis. Mitochondrial diseases are an excellent target for hypothesis-generating omics approaches, as the disease group is mechanistically exceptionally complex. Although the genetic background in mitochondrial diseases is in either the nuclear or the mitochondrial genome, the typical downstream effect is dysfunction of the mitochondrial respiratory chain. However, the clinical manifestations show unprecedented variability, including either systemic or tissue-specific effects across multiple organ systems, with mild to severe symptoms, and occurring at any age. So far, the omics approaches have provided mechanistic understanding of tissue-specificity and potential treatment options for mitochondrial diseases, such as metabolome remodeling. However, no curative treatments exist, suggesting that novel approaches are needed. In this Review, we discuss omics approaches and discoveries with the potential to elucidate mechanisms of and therapies for mitochondrial diseases.
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