Service interruption on Monday 11 July from 12:30 to 13:00: all the sites of the CCSD (HAL, EpiSciences, SciencesConf, AureHAL) will be inaccessible (network hardware connection).
Skip to Main content Skip to Navigation
Journal articles

Biomarkers for Detecting Mitochondrial Disorders

Abstract : (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.
Document type :
Journal articles
Complete list of metadata

Cited literature [41 references]  Display  Hide  Download
Contributor : AbdelHakim Ben Hassine Connect in order to contact the contributor
Submitted on : Wednesday, February 13, 2019 - 9:59:28 AM
Last modification on : Wednesday, October 28, 2020 - 9:52:05 AM


Biomarkers for Detecting.pdf
Publication funded by an institution


Distributed under a Creative Commons Attribution 4.0 International License




Josef Finsterer, Sinda Zarrouk-Mahjoub. Biomarkers for Detecting Mitochondrial Disorders. Journal of Clinical Medicine Research, Elmer Press, 2018, 7 (2), pp.16. ⟨10.3390/jcm7020016⟩. ⟨pasteur-02017289⟩



Record views


Files downloads