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2018 ; 7
(2
): ä Nephropedia Template TP
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Biomarkers for Detecting Mitochondrial Disorders
#MMPMID29385732
Finsterer J
; Zarrouk-Mahjoub S
J Clin Med
2018[Jan]; 7
(2
): ä PMID29385732
show ga
(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.