RT Journal Article
T1 Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
A1 López Valverde, Laura
A1 Vázquez Mosquera, María Eugenia
A1 Colón Mejeras, Cristóbal
A1 Bravo López, Susana Belén
A1 Barbosa Gouveia, Sofia
A1 Álvarez González, José Víctor
A1 Sánchez Martínez, Rosario
A1 López Mendoza, Manuel
A1 López Rodríguez, Mónica
A1 Villacorta Argüelles, Eduardo
A1 Goicoechea Diezhandino, María A.
A1 Guerrero Márquez, Francisco J.
A1 Ortolano, Saida
A1 Leao Teles, Elisa
A1 Hermida Ameijeiras, Álvaro
A1 Couce Pico, María Luz
K1 Fabry disease
K1 Biomarkers
K1 Proteomics
K1 Plasma
K1 Clinical phenotypes
K1 Sex
AB 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. The >30 proteins that were differentially expressed between the 2 groups included proteins implicated in processes such as inflammation, heme and haemoglobin metabolism, oxidative stress, coagulation, complement cascade, glucose and lipid metabolism, and glycocalyx formation. Stratification by sex revealed that certain proteins were differentially expressed in a sex-dependent manner. Apolipoprotein A-IV was upregulated in FD patients with complications, especially those with chronic kidney disease, and apolipoprotein C-III and fetuin-A were identified as possible markers of FD with left ventricular hypertrophy. All these proteins had a greater capacity to identify the presence of complications in FD patients than lyso-GB3, with apolipoprotein A-IV standing out as being more sensitive and effective in differentiating the presence and absence of chronic kidney disease in FD patients than renal markers such as creatinine, glomerular filtration rate and microalbuminuria. Identification of these potential biomarkers can help further our understanding of the pathophysiological processes that underlie the heterogeneous clinical manifestations associated with FD
PB Elsevier
SN 1931-5244
YR 2024
FD 2024
LK http://hdl.handle.net/10347/33868
UL http://hdl.handle.net/10347/33868
LA eng
NO Translational Research, Volume 269, 2024, Pages 47-63
NO The authors thank all study participants and all clinicians who collaborated in recruiting patients and gathering clinical data. The authors also thank the Spanish Society for the Promotion of Science; MetabERN and RICORS for their support. All authors have read the journal's policy on disclosure of potential conflicts of interest and they declare no competing interests. All authors have read the journal's authorship agreement and the manuscript has been reviewed by and approved by all named authors. This work was supported by a research grant from Sanofi-Aventis Groupe (SGZ201912825)
DS Minerva
RD 24 abr 2026