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Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression

Authors :
Adrián Alonso-Núñez
Tania Pérez-Márquez
Marta Alves-Villar
Carlos Fernández-Pereira
Julián Fernández-Martín
Alberto Rivera-Gallego
Cristina Melcón-Crespo
Beatriz San Millán-Tejado
Aurora Ruz-Zafra
Remedios Garofano-López
Rosario Sánchez-Martínez
Elena García-Payá
Manuel López-Mendoza
Ignacio Martín-Suárez
Saida Ortolano
Source :
International Journal of Molecular Sciences, Vol 25, Iss 11, p 6024 (2024)
Publication Year :
2024
Publisher :
MDPI AG, 2024.

Abstract

Fabry disease is an invalidating multisystemic disorder affecting α-Galactosidase, a rate-limiting hydrolase dedicated to lipid catabolism. Non-metabolized substrates, such as Globotriaosylceramide and its derivatives trigger the direct or indirect activation of inflammatory events and endothelial dysfunction. In spite of the efficacy demonstrated by enzyme replacement therapy or pharmacological chaperones in delaying disease progression, few studies have analyzed whether these treatments can improve the pro-inflammatory state of FD patients. Therefore, the aim of this work was to assess cytokines and cardiovascular risk-related proteins detectable in plasma from FD patients, whether treated or not with ERT, to evaluate the reliability of these markers in monitoring disease stage and treatment effects. We identified inflammatory and endothelial dysfunction markers (ADAMTS-13, TNF-α, GDF-15, MIP-1β, VEGFA, MPO, and MIC-1) that cooperate in a common pathway and are increased in FD patients’ plasma samples. As shown by the assessment of these proteins over time, they can help to evaluate the risk of higher severity in FD, as well as ERT effects. Even though the analyzed proteins cannot be considered as proper biomarkers due to their non-specificity to FD, taken together they can provide a signature of reference molecules with prognostic value for early diagnosis, and evaluation of disease progression and treatment efficacy, using blood samples.

Details

Language :
English
ISSN :
14220067 and 16616596
Volume :
25
Issue :
11
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.f6efd209eb834946ab0d655f087e446f
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms25116024