Commentary 10.1172/JCI145158

Proteomic and metabolomic advances uncover biomarkers of mitochondrial disease pathophysiology and severity

Marjan Gucek1 and Michael N. Sack2

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: JCI | PubMed | Google Scholar |

Published January 19, 2021 - More info

Published in Volume 131, Issue 2 on January 19, 2021
J Clin Invest. 2021;131(2):e145158. https://doi.org/10.1172/JCI145158.
© 2021 American Society for Clinical Investigation
Published January 19, 2021 - Version history
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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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