Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent's disease type 1 Spanish patients

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• dc.contributor.author Burballa Tàrrega, Carla, 1988-
• dc.contributor.author Durán, Mónica
• dc.contributor.author Martínez, Cristina
• dc.contributor.author Ariceta, Gema
• dc.contributor.author Cantero Recasens, Gerard, 1984-
• dc.contributor.author Meseguer Navarro, Anna
• dc.date.accessioned 2025-07-08T06:37:02Z
• dc.date.available 2025-07-08T06:37:02Z
• dc.date.issued 2023
• dc.description Article disponible en castellà: http://hdl.handle.net/10230/70862
• dc.description.abstract Background and objectives: Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic kidney disease, and low-weight proteinuria, the molecular hallmark of the disease. Currently, there is no specific curative treatment, only symptomatic and does not prevent the progression of the disease. In this study we have isolated and characterized urinary extracellular vesicles (uEVs) enriched in exosomes that will allow us to identify biomarkers associated with DD1 progression and a better understanding of the pathophysiological bases of the disease. Materials and methods: Through a national call from the Spanish Society of Nephrology (SEN) and the Spanish Society of Pediatric Nephrology (AENP), urine samples were obtained from patients and controls from different Spanish hospitals, which were processed to obtain the uEVS. The data of these patients were provided by the respective nephrologists and/or extracted from the RENALTUBE registry. The uEVs were isolated by ultracentrifugation, morphologically characterized and their protein and microRNA content extracted. Results: 25 patients and 10 controls were recruited, from which the urine was processed to isolate the uEVs. Our results showed that the relative concentration of uEVs/mL is lower in patients compared to controls (0.26 × 106 uEVs/mL vs 1.19 × 106 uEVs/mL, p < 0.01). In addition, the uEVs of the patients were found to be significantly larger than those of the control subjects (mean diameter: 187.8 nm vs 143.6 nm, p < 0.01). Finally, our data demonstrated that RNA had been correctly extracted from both patient and control exosomes. Conclusions: In this work we describe the isolation and characterization of uEVs from patients with Dent 1 disease and healthy controls, that shall be useful for the subsequent study of differentially expressed cargo molecules in this pathology.
• dc.format.mimetype application/pdf
• dc.identifier.citation Burballa C, Duran M, Martínez C, Ariceta G, Cantero-Recasens G, Meseguer A. Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent's disease type 1 Spanish patients. Nefrologia (Engl Ed). 2023 Dec;43 Suppl 2:77-84. DOI: 10.1016/j.nefroe.2024.01.016
• dc.identifier.doi http://dx.doi.org/10.1016/j.nefroe.2024.01.016
• dc.identifier.issn 2013-2514
• dc.identifier.uri http://hdl.handle.net/10230/70861
• dc.language.iso eng
• dc.publisher Elsevier
• dc.relation.ispartof Nefrologia (Engl Ed). 2023 Dec;43 Suppl 2:77-84
• dc.rights © 2023 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
• dc.subject.keyword Dent’s disease
• dc.subject.keyword Exosomes
• dc.subject.keyword Extracelular vesicles
• dc.subject.keyword DD1
• dc.subject.keyword CLCN5
• dc.title Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent's disease type 1 Spanish patients
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion