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Objective: Given their diverse phenotypes, mitochondrial diseases (MDs) are often difficult to diagnose. Fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) represent promising biomarkers for MD diagnosis. Herein we conducted a meta-analysis to compare their diagnostic accuracy for MDs., Methods: We comprehensively searched PubMed, EMBASE, MEDLINE, the Web of Science, and Cochrane Library up to 1 January 2020. Data were analyzed by two independent reviewers. We obtained the sensitivity and specificity, positive and negative likelihood ratios (LR+ and LR-), diagnostic odds ratios (DORs) and summary receiver operating characteristic (SROC) curves of each diagnostic method., Results: Eight randomized controlled trials (RCTs) including 1563 participants (five encompassing 718 FGF-21 assessments; seven encompassing 845 participants for GDF-15) were included. Pooled sensitivity, specificity, DOR and SROC of FGF-21 were 0.71 (95% CI 0.53, 0.84), 0.88(95% CI 0.82, 0.93), 18 (95% CI 6, 54), 0.90 (95% CI 0.87, 0.92), respectively, which were lower than GDF-15 values; 0.83 (95% CI 0.65, 0.92), 0.92 (95% CI 0.84, 0.96), 52 (95% CI 13, 205), 0.94 (95% CI 0.92, 0.96)., Interpretation: FGF-21 and GDF-15 showed acceptable sensitivity and high specificity. Of the biomarkers, GDF-15 had the highest diagnostic accuracy., (© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Pyruvate therapy is a promising approach for the treatment of mitochondrial diseases. To identify novel biomarkers for diagnosis and to evaluate therapeutic efficacy, we performed microarray analysis of 2SD cybrid cells harboring a MELAS-causing mutation and control cells treated with either lactate or pyruvate. We found that expression and secretion of growth differentiation factor 15 (GDF15) were increased in 2SD cells treated with lactate and that serum GDF15 levels were significantly higher in patients with mitochondrial diseases than in those with other diseases, suggesting that GDF15 could be a useful marker for diagnosis and evaluating the therapeutic efficacy of pyruvate., (Copyright © 2014. Published by Elsevier B.V.)