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Article

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

1
CIUSSS de l’Estrie-CHUS, Université de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada
2
CIUSSS du Nord-de-l’Île-de-Montréal, Hôpital du Sacré-Coeur de Montréal, Clinical Research Unit, 5400 Gouin Blvd West, Montreal, QC H4J 1C5, Canada
3
Department of Medicine Pharmacology and Physiology, Université de Montréal, 2900 Édouard-Montpetit Blvd, Montreal, QC H3T 1J4, Canada
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(17), 6114; https://doi.org/10.3390/ijms21176114
Received: 24 July 2020 / Revised: 19 August 2020 / Accepted: 21 August 2020 / Published: 25 August 2020
(This article belongs to the Special Issue Biomarkers in Rare Diseases)
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding the α-galactosidase A enzyme. This enzyme cleaves the last sugar unit of glycosphingolipids, including globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3), and galabiosylceramide (Ga2). Enzyme impairment leads to substrate accumulation in different organs, vascular endothelia, and biological fluids. Enzyme replacement therapy (ERT) is a commonly used treatment. Urinary analysis of Gb3 isoforms (different fatty acid moieties), as well as lyso-Gb3 and its analogues, is a reliable way to monitor treatment. These analogues correspond to lyso-Gb3 with chemical modifications on the sphingosine moiety (−C2H4, −C2H4+O, −H2, −H2+O, +O, +H2O2, and +H2O3). The effects of sample collection time on urinary biomarker levels between ERT cycles were not previously documented. The main objective of this project was to analyze the aforementioned biomarkers in urine samples from seven Fabry disease patients (three treated males, three treated females, and one ERT-naïve male) collected twice a day (morning and evening) for 42 days (three ERT cycles). Except for one participant, our results show that the biomarker levels were generally more elevated in the evening. However, there was less variability in samples collected in the morning. No cyclic variations in biomarker levels were observed between ERT infusions. View Full-Text
Keywords: Fabry disease; diurnal variation; globotriaosylceramide; globotriaosylsphingosine; mass spectrometry; glycosphingolipids Fabry disease; diurnal variation; globotriaosylceramide; globotriaosylsphingosine; mass spectrometry; glycosphingolipids
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MDPI and ACS Style

Boutin, M.; Lavoie, P.; Menkovic, I.; Toupin, A.; Abaoui, M.; Elidrissi-Elawad, M.; Arthus, M.-F.; Fortier, C.; Ménard, C.; Maranda, B.; Bichet, D.G.; Auray-Blais, C. Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles. Int. J. Mol. Sci. 2020, 21, 6114. https://doi.org/10.3390/ijms21176114

AMA Style

Boutin M, Lavoie P, Menkovic I, Toupin A, Abaoui M, Elidrissi-Elawad M, Arthus M-F, Fortier C, Ménard C, Maranda B, Bichet DG, Auray-Blais C. Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles. International Journal of Molecular Sciences. 2020; 21(17):6114. https://doi.org/10.3390/ijms21176114

Chicago/Turabian Style

Boutin, Michel, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G. Bichet, and Christiane Auray-Blais. 2020. "Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles" International Journal of Molecular Sciences 21, no. 17: 6114. https://doi.org/10.3390/ijms21176114

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