1. Oxidative stress biomarkers in Fabry disease: is there a room for them?
- Author
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Alessandro Salviati, Irene Simonetta, Costanza Simoncini, Michelangelo Mancuso, V. Cianci, Daniela Concolino, V. Vicenzi, Ginevra De Marchi, Antonino Tuttolomondo, V. Montano, Lucia Chico, Simona Sestito, Marialuisa Zedde, Domenico Girelli, Gabriele Siciliano, Francesco Gruosso, Antonio Pinto, S. Torri, Simoncini C., Torri S., Montano V., Chico L., Gruosso F., Tuttolomondo A., Pinto A., Simonetta I., Cianci V., Salviati A., Vicenzi V., Marchi G., Girelli D., Concolino D., Sestito S., Zedde M., Siciliano G., and Mancuso M.
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Antioxidant ,medicine.medical_treatment ,Globotriaosylceramide ,Oxidative phosphorylation ,Disease ,medicine.disease_cause ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,lysoGb3 ,Internal medicine ,medicine ,Humans ,Fabry disease ,Original Communication ,business.industry ,Biomarker ,medicine.disease ,Pathophysiology ,Oxidative Stress ,030104 developmental biology ,Endocrinology ,Neurology ,chemistry ,Advanced oxidation protein products ,alpha-Galactosidase ,Mutation ,Neurology (clinical) ,business ,Biomarkers ,030217 neurology & neurosurgery ,Oxidative stress - Abstract
Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression. Methods We have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls. Results AOPP levels were higher in patients than in controls (p p Conclusions Oxidative stress occurs in FD in both treated and naïve patients, highlighting the need of further research in oxidative stress-targeted therapies. Furthermore, we found that oxidative stress biomarkers may represent early markers of disease in treatment-naïve patients with a potential role in helping interpretation of FD-related mutations and time to treatment decision.
- Published
- 2020