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.
- 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
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
To enable the early diagnosis of pancreatic cancer, the search for and definition of reliable biomarkers remain a subject of great interest, with the specificity and sensitivity of the currently used biomarkers being below the required values. We tested a novel diagnostic approach for pancreatic cancer based on the specific molecular signature of blood plasma components. To acquire more detailed structural information, structure-sensitive chiroptical methods (electronic circular dichroism and Raman optical activity) were supplemented by conventional Raman and infrared spectroscopies. The obtained spectra were subsequently processed by linear discriminant analysis yielding high values of specificity and sensitivity. In addition, to monitor not only large biomolecules as potential biomarkers but also those of low molecular weight, we conducted an analysis of blood plasma samples by using metabolomics. The achieved results suggest a panel of promising biomarkers for a reliable detection of pancreatic cancer.
- MeSH
- cirkulární dichroismus * metody MeSH
- diskriminační analýza MeSH
- karnitin analogy a deriváty krev MeSH
- lidé středního věku MeSH
- lidé MeSH
- lysofosfatidylcholiny krev MeSH
- metabolomika * metody MeSH
- nádorové biomarkery krev MeSH
- nádory slinivky břišní * krev MeSH
- pilotní projekty MeSH
- Ramanova spektroskopie * metody MeSH
- senioři MeSH
- spektroskopie infračervená s Fourierovou transformací * metody MeSH
- studie případů a kontrol MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
The current diagnostic tools are insufficient for the early detection of many diseases, including type 1 diabetes mellitus. The disease is accompanied not only by a permanently elevated level of blood glucose and altered levels of other biomarkers, but also by changes in the conformation of blood plasma proteins and other biomolecules associated with the pathogenesis of diabetes. However, the observation of these structural changes by conventional Raman and infrared spectroscopy is limited. Therefore, we used chiroptical spectroscopy which is inherently sensitive to the 3D structure of chiral molecules and able to detect any possible structural changes. We investigated the blood plasma samples of diabetic patients and healthy controls by Raman optical activity and electronic circular dichroism. The measurements were combined with conventional methods of molecular spectroscopy, i.e. Raman and infrared spectroscopy. The obtained data sets were statistically evaluated using linear discriminant analysis focusing on the spectral ranges that correspond to the structure and conformation of proteins and other plasmatic biomolecules. Our results suggest that chiroptical spectroscopy gives more detailed information about the 3D structure of biomolecules; and therefore, might be a promising complement to conventional diagnostic methods.
- MeSH
- biologické markery krev chemie MeSH
- diabetes mellitus 1. typu krev MeSH
- diskriminační analýza MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- spektrální analýza * MeSH
- studie případů a kontrol MeSH
- vibrace * MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
