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Updated: Jun 26, 2025

Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective
Jacopo Gervasoni1, Aniello Primiano1, Michela Cicchinelli2
1Fondazione Policlinico Universitario 'Agostino Gemelli' IRCCS, 00168 Rome, Italy.
Abstract:
Mitochondrial diseases (MDs) affect 4300 individuals, with different ages of presentation and manifestation in any organ. How defects in mitochondria can cause such a diverse range of human diseases remains poorly understood. In recent years, several published research articles regarding the metabolic and protein profiles of these neurogenetic disorders have helped shed light on the pathogenetic mechanisms. By investigating different pathways in MDs, often with the aim of identifying disease biomarkers, it is possible to identify molecular processes underlying the disease. In this perspective, omics technologies such as proteomics and metabolomics considered in this review, can support unresolved mitochondrial questions, helping to improve outcomes for patients.
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