Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients
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Published:2023-09-22
Issue:19
Volume:24
Page:14440
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ISSN:1422-0067
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Container-title:International Journal of Molecular Sciences
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language:en
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Short-container-title:IJMS
Author:
Malinová Věra1, Poupětová Helena1, Řeboun Martin1, Dvořáková Lenka1, Reichmannová Stella1, Švandová Ivana1, Murgašová Lenka1ORCID, Kasper David C.2, Magner Martin1ORCID
Affiliation:
1. Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic 2. ARCHIMEDlife Laboratories, 1110 Vienna, Austria
Abstract
A personalized treatment decision for Gaucher disease (GD) patients should be based on relevant markers that are specific to GD, play a direct role in GD pathophysiology, exhibit low genetic variation, reflect the therapy, and can be used for all patients. Thirty-four GD patients treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) were analyzed for platelet count, chitotriosidase, and tartrate-resistant acid phosphatase activity in plasma samples, and quantitative measurement of Lyso-Gb1 was performed in dried blood spots. In our ERT and SRT study cohorts, plasma lyso-GL1 correlated significantly with chito-triosidase (ERT: r = 0.55, p < 0.001; SRT: r = 0.83, p < 0.001) and TRAP (ERT: r = 0.34, p < 0.001; SRT: r = 0.88, p < 0.001), irrespective of treatment method. A platelet count increase was associated with a Lyso-Gb1 decrease in both treatment groups (ERT: p = 0.021; SRT: p = 0.028). The association of Lyso-Gb1 with evaluated markers was stronger in the SRT cohort. Our results indicate that ERT and SRT in combination or in a switch manner could offer the potential of individual drug effectiveness for particular GD symptoms. Combination of the key biomarker of GD, Lyso-Gb1, with other biomarkers can offer improved response assessment to long-term therapy.
Funder
Ministry of Health of the Czech Republic
Subject
Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis
Reference57 articles.
1. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis;Kaplan;Arch. Pediatr. Adolescent Med.,2006 2. Glucosylsphingosine is a key biomarker of Gaucher disease;Murugesan;Am. J. Hematol.,2016 3. Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., and Brassier, A. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci., 18. 4. A “dose” effect of mutations in the GBA gene on Parkinson’s disease phenotype;Thaler;Park. Relat. Disord.,2017 5. Polygenic Parkinson’s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease;Blauwendraat;Mov. Disord.,2023
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