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Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach
L. Stovickova, H. Hansikova, J. Hanzalova, Z. Musova, V. Semjonov, P. Stovicek, H. Hadzic, L. Novotna, M. Simcik, P. Strnad, A. Serbina, S. Karamazovova, J. Schwabova Paulasova, M. Vyhnalek, P. Krsek, A. Zumrova
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
Grantová podpora
309121
Grantová Agentura, Univerzita Karlova
226423
Grantová Agentura, Univerzita Karlova
NCT02069509
EFACTS
LX22NPO5107
Program EXCELES - Funded by the European Union - Next Generation EU
MH CZ-DRO-FNM64203
MH CZ - DRO
MH CZ-DRO-VFN64165
MH CZ - DRO
- 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
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.
Citace poskytuje Crossref.org
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- $a Stovickova, Lucie $u Department of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic. lucie.stovickova@lfmotol.cuni.cz $u Centre of Hereditary Ataxias, Second Faculty of Medicine, An Official EFACTS Site, a Member of European Reference Network for Rare Neurological Diseases (ERN-RND), Charles University, Motol University Hospital, Prague 5, Czech Republic. lucie.stovickova@lfmotol.cuni.cz $1 https://orcid.org/0000000306460262
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- $a 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.
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