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Open Access 01-12-2020 | Fabry Disease | Original Communication

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Authors: C. Simoncini, S. Torri, V. Montano, L. Chico, F. Gruosso, A. Tuttolomondo, A. Pinto, I. Simonetta, V. Cianci, A. Salviati, V. Vicenzi, G. Marchi, D. Girelli, D. Concolino, S. Sestito, M. Zedde, G. Siciliano, Michelangelo Mancuso

Published in: Journal of Neurology | Issue 12/2020

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 < 0.00001) and patients presented decreased levels of antioxidant defences (FRAP and thiols) with respect to controls (p < 0.00001). In a small group of eight treatment-naïve subjects with FD-related mutations, we found altered levels of oxidative stress parameters and incipient signs of organ damage despite normal lyso-Gb3 levels.

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.

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Title: Oxidative stress biomarkers in Fabry disease: is there a room for them?
Authors: C. Simoncini
S. Torri
V. Montano
L. Chico
F. Gruosso
A. Tuttolomondo
A. Pinto
I. Simonetta
V. Cianci
A. Salviati
V. Vicenzi
G. Marchi
D. Girelli
D. Concolino
S. Sestito
M. Zedde
G. Siciliano
Michelangelo Mancuso
Publication date: 01-12-2020
Publisher: Springer Berlin Heidelberg
Keywords: Fabry Disease
Biomarkers
Published in: Journal of Neurology / Issue 12/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-10044-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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