PDF(Pubmed)
Abstract：
This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich\'s ataxia (FA) patients, focusing on the Electron Transport Chain complexes I, II, and IV, the Krebs Cycle enzyme Citrate Synthase, and Coenzyme Q10 levels. It examines a cohort of 34 FA patients, comparing their mitochondrial enzyme activities and clinical parameters, including disease duration and cardiac markers, with those of 17 healthy controls. The findings reveal marked reductions in complexes II and, specifically, IV, highlighting mitochondrial impairment in FA. Additionally, elevated Neurofilament Light Chain levels and cardiomarkers were observed in FA patients. This research enhances our understanding of FA pathophysiology and suggests potential biomarkers for monitoring disease progression. The study underscores the need for further clinical trials to validate these findings, emphasizing the critical role of mitochondrial dysfunction in FA assessment and treatment.
摘要：
本研究对Friedreich共济失调（FA）患者的线粒体酶活性进行了深入分析，专注于电子传输链配合物I，II,IV,克雷布斯循环酶柠檬酸合成酶，和辅酶Q10水平。它检查了34名FA患者的队列，比较它们的线粒体酶活性和临床参数，包括疾病持续时间和心脏标志物，17个健康对照者。研究结果表明，复合物II和，具体来说,IV,强调FA中的线粒体损伤。此外,在FA患者中观察到神经丝轻链水平和心脏标志物升高.这项研究增强了我们对FA病理生理学的理解，并提出了监测疾病进展的潜在生物标志物。该研究强调需要进一步的临床试验来验证这些发现，强调线粒体功能障碍在FA评估和治疗中的关键作用。
