Эффективность новых плазменных биомаркеров FGF-21 и GDF-15 в дифференциальной диагностике митохондриальных заболеваний

Introduction. Plasma circulating cytokines FGF-21 and GDF-15 are recently described and actively investigated cell’s metabolism regulators. They both have endocrine function and highly expressed in liver upon stress and starvation. Several studies established these markers as highly sensitive and specific for diagnosis of patients with mitochondrial diseases, especially those with prominent muscle system involvement. Mitochondrial diseases are clinically and genetically heterogeneous group of diseases. Aim. In our study we aimed to reveal the role of this markers in differential diagnostic of mitochondrial diseases. We measured plasma FGF-21 and GDF-15 concentration in 107 patients with genetically confirmed primary mitochondrial disease and control group. Results. The concentration of FGF-21 and GDF-15 in the group of patients with mitochondrial diseases was significantly higher than in the control. GDF-15 showed higher sensitivity and specificity (0.89, 0.88, AUC = 0.932) than FGF-21 (0.75, 0.69, AUC = 0.82). Especially sharp increase of both markers (100-200 times) was noted in the group of mitochondrial hepatopathies, GDF-15 showed the ability to distinguish some other forms of mitochondrial disease among themselves.