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J. Clin. Med. 2018, 7(2), 16; doi:10.3390/jcm7020016

Biomarkers for Detecting Mitochondrial Disorders

Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria
El Manar and Genomics Platform, Pasteur Institute of Tunis, University of Tunis, Tunis 1068, Tunisia
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 9 December 2017 / Revised: 28 December 2017 / Accepted: 19 January 2018 / Published: 30 January 2018
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(1) Objectives: Mitochondrial disorders (MIDs) are a genetically and phenotypically heterogeneous group of slowly or rapidly progressive disorders with onset from birth to senescence. Because of their variegated clinical presentation, MIDs are difficult to diagnose and are frequently missed in their early and late stages. This is why there is a need to provide biomarkers, which can be easily obtained in the case of suspecting a MID to initiate the further diagnostic work-up. (2) Methods: Literature review. (3) Results: Biomarkers for diagnostic purposes are used to confirm a suspected diagnosis and to facilitate and speed up the diagnostic work-up. For diagnosing MIDs, a number of dry and wet biomarkers have been proposed. Dry biomarkers for MIDs include the history and clinical neurological exam and structural and functional imaging studies of the brain, muscle, or myocardium by ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), MR-spectroscopy (MRS), positron emission tomography (PET), or functional MRI. Wet biomarkers from blood, urine, saliva, or cerebrospinal fluid (CSF) for diagnosing MIDs include lactate, creatine-kinase, pyruvate, organic acids, amino acids, carnitines, oxidative stress markers, and circulating cytokines. The role of microRNAs, cutaneous respirometry, biopsy, exercise tests, and small molecule reporters as possible biomarkers is unsolved. (4) Conclusions: The disadvantages of most putative biomarkers for MIDs are that they hardly meet the criteria for being acceptable as a biomarker (missing longitudinal studies, not validated, not easily feasible, not cheap, not ubiquitously available) and that not all MIDs manifest in the brain, muscle, or myocardium. There is currently a lack of validated biomarkers for diagnosing MIDs. View Full-Text
Keywords: biomarker; diagnosis; mitochondrial disorder; mtDNA; oxidative phosphorylation; ATP biomarker; diagnosis; mitochondrial disorder; mtDNA; oxidative phosphorylation; ATP
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Finsterer, J.; Zarrouk-Mahjoub, S. Biomarkers for Detecting Mitochondrial Disorders. J. Clin. Med. 2018, 7, 16.

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