A2 Vertaisarvioitu katsausartikkeli tieteellisessä lehdessä
Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases
Tekijät: Sofia Khan, Gulayse Ince-Dunn, Anu Suomalainen, Laura L. Elo
Kustantaja: AMER SOC CLINICAL INVESTIGATION INC
Julkaisuvuosi: 2020
Journal: Journal of Clinical Investigation
Tietokannassa oleva lehden nimi: JOURNAL OF CLINICAL INVESTIGATION
Lehden akronyymi: J CLIN INVEST
Vuosikerta: 130
Numero: 1
Aloitussivu: 20
Lopetussivu: 28
Sivujen määrä: 9
ISSN: 0021-9738
DOI: https://doi.org/10.1172/JCI129202
Tiivistelmä
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.
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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