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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.

Authors :
López-Valverde L
Vázquez-Mosquera ME
Colón-Mejeras C
Bravo SB
Barbosa-Gouveia S
Álvarez JV
Sánchez-Martínez R
López-Mendoza M
López-Rodríguez M
Villacorta-Argüelles E
Goicoechea-Diezhandino MA
Guerrero-Márquez FJ
Ortolano S
Leao-Teles E
Hermida-Ameijeiras Á
Couce ML
Source :
Translational research : the journal of laboratory and clinical medicine [Transl Res] 2024 Jul; Vol. 269, pp. 47-63. Date of Electronic Publication: 2024 Feb 21.
Publication Year :
2024

Abstract

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.<br /> (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Details

Language :
English
ISSN :
1878-1810
Volume :
269
Database :
MEDLINE
Journal :
Translational research : the journal of laboratory and clinical medicine
Publication Type :
Academic Journal
Accession number :
38395389
Full Text :
https://doi.org/10.1016/j.trsl.2024.02.006