Characterization of the Plasma Proteomic Profile of Fabry Disease: Potential Sex- and Clinical Phenotype-specific Biomarkers

Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient α-galactosidase A (α-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well as by the frequently inconclusive biochemical and genetic test results that do not correlate with clinical course. We sought to identify potential biomarkers of FD to better understand the underlying pathophysiology and clinical phenotypes. We compared the plasma proteomes of 50 FD patients and 50 matched healthy controls using DDA and SWATH-MS.

Source: Translational Research - February 21, 2024 Category: Research Authors: Laura L ópez-Valverde, María E. Vázquez-Mosquera, Cristóbal Colón-Mejeras, Susana B. Bravo, Sofía Barbosa-Gouveia, J. Víctor Álvarez, Rosario Sánchez-Martínez, Manuel López-Mendoza, Mónica López-Rodríguez, Eduardo Villacorta-Argüelles, Mar� Source Type: research