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

J Clin Invest. 2021 Jan 19;131(2):e145158. doi: 10.1172/JCI145158.

Abstract

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.

Publication types

  • Research Support, N.I.H., Intramural
  • Comment

MeSH terms

  • Biomarkers
  • Humans
  • MELAS Syndrome* / genetics
  • Mitochondrial Diseases* / diagnosis
  • Mitochondrial Diseases* / genetics
  • Proteomics
  • Stroke*

Substances

  • Biomarkers