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.

• Klíčová slova
• Biomarkers, Complex I (NQR), Complex II (SQR), Complex IV (COX), Disease monitoring, Friedreich's ataxia, Mitochondrial dysfunction, Neurofilament light chain (NFL), Therapeutic monitoring, Ubiquinone (Coenzyme Q10),
• MeSH
• biologické markery * metabolismus   MeSH
• citrátsynthasa metabolismus   MeSH
• dospělí MeSH
• Friedreichova ataxie * diagnóza   MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• mitochondrie metabolismus   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• ubichinon * analogy a deriváty   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery * MeSH
• citrátsynthasa MeSH
• coenzyme Q10 MeSH Prohlížeč
• ubichinon * MeSH