Mitochondrial disorders are often difficult to diagnose because of diverse clinical phenotypes. FGF-21 and GDF-15 are metabolic hormones and promising biomarkers for the diagnosis of these disorders. This study has systematically evaluated serum FGF-21 and GDF-15 levels by ELISA in a well-defined cohort of patients with definite mitochondrial disorders (n = 30), neuromuscular disease controls (n = 36) and healthy controls (n = 36) and aimed to ascertain their utility in the diagnosis of mitochondrial disorders. Both serum FGF-21 and GDF-15 were significantly elevated in patients with mitochondrial disorders, especially in those with muscle involvement. The levels were higher in patients with mitochondrial deletions (both single and multiple) and translation disorders compared to respiratory chain subunit or assembly factor defects.

由于不同的临床表型，线粒体疾病通常难以诊断。FGF-21 和 GDF-15 是代谢激素和有希望用于诊断这些疾病的生物标志物。本研究通过 ELISA 系统评估了明确的线粒体疾病患者 (n = 30)、神经肌肉疾病对照 (n = 36) 和健康对照 (n = 36) 患者的血清 FGF-21 和 GDF-15 水平并旨在确定它们在线粒体疾病诊断中的效用。线粒体疾病患者，尤其是肌肉受累患者，血清 FGF-21 和 GDF-15 均显着升高。与呼吸链亚基或装配因子缺陷相比，线粒体缺失（单个和多个）和翻译障碍患者的水平更高。