Plasma and platelet lipidome changes in Fabry disease.

Autor: Burla B; Singapore Lipidomics Incubator, Life Sciences Institute, National University of Singapore, Singapore. Electronic address: bo.burla@nus.edu.sg., Oh J; Precision Medicine Translational Research Program and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore. Electronic address: bchoj@nus.edu.sg., Nowak A; Department of Internal Medicine, Psychiatric University Clinic Zurich, Switzerland; Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich, Switzerland. Electronic address: albina.nowak@usz.ch., Piraud N; HTHC High Tech Home Care AG, Rotkreuz, Switzerland., Meyer E; Swiss Red Cross (SRC), Zurich-Schlieren, Switzerland., Mei D; Precision Medicine Translational Research Program and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Bendt AK; Singapore Lipidomics Incubator, Life Sciences Institute, National University of Singapore, Singapore., Studt JD; Division of Medical Oncology and Hematology, University Hospital Zurich, Zurich, Switzerland., Frey BM; Swiss Red Cross (SRC), Zurich-Schlieren, Switzerland., Torta F; Singapore Lipidomics Incubator, Life Sciences Institute, National University of Singapore, Singapore; Precision Medicine Translational Research Program and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Wenk MR; Singapore Lipidomics Incubator, Life Sciences Institute, National University of Singapore, Singapore; Precision Medicine Translational Research Program and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. Electronic address: mwenk@hbku.edu.qa., Krayenbuehl PA; Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich, Switzerland; General Practice Brauereistrasse, Uster-Zurich, Switzerland. Electronic address: pierrea.krayenbuehl@usz.ch.
Jazyk: angličtina
Zdroj: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Aug 15; Vol. 562, pp. 119833. Date of Electronic Publication: 2024 Jun 30.
DOI: 10.1016/j.cca.2024.119833
Abstrakt: Background: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by the progressive accumulation of globotriaosylceramide (Gb3) leading to systemic manifestations such as chronic kidney disease, cardiomyopathy, and stroke. There is still a need for novel markers for improved FD screening and prognosis. Moreover, the pathological mechanisms in FD, which also include systemic inflammation and fibrosis, are not yet fully understood.
Methods: Plasma and platelets were obtained from 11 ERT (enzyme-replacement therapy)-treated symptomatic, 4 asymptomatic FD patients, and 13 healthy participants. A comprehensive targeted lipidomics analysis was conducted quantitating more than 550 lipid species.
Results: Sphingadiene (18:2;O2)-containing sphingolipid species, including Gb3 and galabiosylceramide (Ga2), were significantly increased in FD patients. Plasma levels of lyso-dihexosylceramides, sphingoid base 1-phosphates (S1P), and GM3 ganglioside were also altered in FD patients, as well as specific plasma ceramide ratios used in cardiovascular disease risk prediction. Gb3 did not increase in patients' platelets but displayed a high inter-individual variability in patients and healthy participants. Platelets accumulated, however, lyso-Gb3, acylcarnitines, C16:0-sphingolipids, and S1P.
Conclusions: This study identified lipidome changes in plasma and platelets from FD patients, a possible involvement of platelets in FD, and potential new markers for screening and monitoring of this disease.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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