Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 130, Issue 1, Pages 20-28Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI129202
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Funding
- European Research Council [677943]
- European Union [675395]
- Academy of Finland [307592, 303349, 307431, 296801, 304995, 310561, 313343]
- Juvenile Diabetes Research Foundation [2-2013-32]
- Tekes, the Finnish Funding Agency for Innovation [1877/31/2016]
- Sigrid Juselius Foundation
- University of Turku
- Abo Akademi University
- Biocenter Finland
- ELIXIR Finland Node
- Finnish Foundation for Cardiovascular Research [180072]
- University of Helsinki
- Academy of Finland (AKA) [303349, 307592, 307431, 303349, 307592, 307431] Funding Source: Academy of Finland (AKA)
- European Research Council (ERC) [677943] Funding Source: European Research Council (ERC)
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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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