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.
Marjan Gucek, Michael N. Sack
Title and authors | Publication | Year |
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Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective
Gervasoni J, Primiano A, Cicchinelli M, Santucci L, Servidei S, Urbani A, Primiano G, Iavarone F |
International journal of molecular sciences | 2024 |
Untargeted metabolome atlas for sleep-related phenotypes in the Hispanic community health study/study of Latinos
Zhang Y, Spitzer BW, Zhang Y, Wallace DA, Yu B, Qi Q, Argos M, Avilés-Santa ML, Boerwinkle E, Daviglus ML, Kaplan R, Cai J, Redline S, Sofer T |
eBioMedicine | 2024 |
Identification and Validation of Nutrient State-Dependent Serum Protein Mediators of Human CD4+ T Cell Responsiveness
K Han, K Singh, MJ Rodman, S Hassanzadeh, Y Baumer, RD Huffstutler, J Chen, J Candia, F Cheung, KE Stagliano, M Pirooznia, TM Powell-Wiley, MN Sack |
Nutrients | 2021 |