Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders

Mitochondrial disorders (MD) comprise a group of heterogeneous clinical for which non-invasive diagnosis remains challenge. Two protein biomarkers have so far emerged MD detection, FGF-21 and GDF-15, but the identification additional capable improving their diagnostic accuracy is highly relevant. Previous studies identified Gelsolin as regulator cell survival adaptations triggered by mitochondrial defects. presents circulating plasma isoform (pGSN), whose altered levels could be hallmark dysfunction. Therefore, we investigated performance pGSN relative to GDF-15. Using ELISA assays, quantified pGSN, FGF-21, GDF-15 in three age- gender-matched adult cohorts: 60 genetically diagnosed patients, 56 healthy donors, 41 patients with unrelated neuromuscular pathologies (non-MD). Clinical variables biomarkers’ were compared between groups. Discrimination ability was calculated using area under ROC curve (AUC). Optimal cut-offs following parameters determined: sensitivity, specificity, positive negative predictive values, likelihood ratios, efficiency. Comprehensive statistical analyses revealed significant discrimination classify individuals, best GDF-15/pGSN combination. preferentially discriminated non-MD 50 years, whereas classified older subjects. Conclusion: improves provided