Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.
J Neurol
; 271(6): 3439-3454, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38520521
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Friedreich Ataxia
/
Biomarkers
/
Ubiquinone
Limits:
Adolescent
/
Adult
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Female
/
Humans
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Male
/
Middle aged
Language:
En
Journal:
J Neurol
Year:
2024
Document type:
Article
Affiliation country:
Czech Republic