Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective

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.

Keywords: FTIR; LC-MS; biomarkers; metabolomics; mitochondrial diseases; personalized medicine; proteomics.

Figure 1

https://app.biorender.com/user/signin (accessed on 30 April 2023). A visual representation of the workflow in an omics investigation. An omics analysis starts with the collection of diverse sample types, including biological fluids (e.g., urine, saliva, blood, and cerebrospinal fluid), tissue extracts or biopsies, and cell cultures. Various analytical techniques, such as Fourier transform infrared spectroscopy (FT-IR), Raman spectroscopy, mass spectrometry (MS), and nuclear magnetic resonance spectroscopy (NMR) are employed, using targeted, semi-targeted, or untargeted approaches. The analytical results are structured into datasets and managed using bioinformatics techniques. Some identified biomolecules can emerge as potential biomarkers.