Commentary 10.1172/JCI145158
1Proteomics Core and
2Laboratory of Mitochondrial Biology and Metabolism National Heart, Lung and Blood Institute, NIH, Bethesda, Maryland, USA.
Address correspondence to: Michael N. Sack, National Heart Lung and Blood Institute, NIH, Building 10-CRC, Room 5-3342, 10 Center Drive, Bethesda, Maryland 20892, USA. Phone: 301.402.9259; Email: sackm@nih.gov.
Find articles by Gucek, M. in: JCI | PubMed | Google Scholar
1Proteomics Core and
2Laboratory of Mitochondrial Biology and Metabolism National Heart, Lung and Blood Institute, NIH, Bethesda, Maryland, USA.
Address correspondence to: Michael N. Sack, National Heart Lung and Blood Institute, NIH, Building 10-CRC, Room 5-3342, 10 Center Drive, Bethesda, Maryland 20892, USA. Phone: 301.402.9259; Email: sackm@nih.gov.
Find articles by
Sack, M.
in:
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Published January 19, 2021 - More info
Advancing proteomic and metabolomic technologies that integrate curated omic databases have crossed a threshold to enable their clinical utility. In this issue of the JCI, Sharma et al. exploit emerging technologies to evaluate whether biomarkers identified in the mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome could refine disease characterization, uncover pathways to monitor therapeutic efficacy, and/or delineate disease-modifying targets. The authors analyzed blood and urine samples from patients with this genetic mitochondrial disease and elucidated proteins and metabolites related to NADH-reductive stress. These circulating biomarkers have intriguing clinical potential that implicate disease pathophysiology and may prove important biomarkers for the future management of MELAS.
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