Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement

The datasets generated during the current study are not publicly availablebut are available from the corresponding author on reasonable request.

Detalles Bibliográficos
Autores: Serrano-Gonzalo, Irene, López de Frutos, Laura, Sancho‐Albero, María, Roca-Espiau, Mercedes, Köhler, Ralf, Giraldo, Pilar
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/399235
Acceso en línea:http://hdl.handle.net/10261/399235
Access Level:acceso abierto
Palabra clave:Biomarkers
Bone disease
Exosomes
Gaucher disease
miRNA
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spelling Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvementSerrano-Gonzalo, IreneLópez de Frutos, LauraSancho‐Albero, MaríaRoca-Espiau, MercedesKöhler, RalfGiraldo, PilarBiomarkersBone diseaseExosomesGaucher diseasemiRNAThe datasets generated during the current study are not publicly availablebut are available from the corresponding author on reasonable request.Bone manifestations are one of the most prevalent complications in patients with Gaucher disease (GD). Bone involvement is evaluated by using imaging methods, and there are different scores to assess its severity. However, there are no biomarkers that allow us to predict these manifestations. In recent years, several miRNAs have been associated with bone involvement and postulated as excellent bioavailable biomarkers. This study aims to identify a miRNA expression profile from plasma exosomes and to associate it with the severity of bone involvement in patients with GD. This study included 60 untreated patients with GD with bone involvement, who were classified according to the S-MRI score into three groups: mild disease (MiBD; S-MRI < 5), moderate disease (MoBD; S-MRI: 5–11), or severe disease (SBD; S-MRI > 11). Plasma exosomes were purified, and miRNAs were extracted and identified by next-generation sequencing (NGS) technology. Differentially expressed miRNAs were validated by droplet digital PCR (ddPCR). In the patients' groups classified by S-MRI, the median ages (Q1–Q3) were: MiBD 19.0 (4.00–40.00), MoBD 40.5 (28.25–56.00), and SBD 37.5 (31.25–47.00) years. When comparing groups, we found 12 differentially expressed exosomal miRNAs. After validation, four miRNAs were identified as differentially expressed: hsa-miR-127-3p, hsa-miR-184, hsa-miR-197-3p, and hsa-miR-660-5p. Notably, hsa-miR-127-3p, hsa-miR-660-5p, and hsa-miR-184 were correlated with the presence of infarcts, necrosis, and the degree of infiltration into the spine, pelvis, and femur. These three miRNAs could serve as bioavailable biomarkers to assess bone disease in GD, and further revalidation with a higher number of patients.This work was supported by Sanofi (Grant No. SGZ-2019-12810) and Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) (Grant No. FEETEG-2020-01). M.S.-A. thanks the AECC for postdoctoral research fellowship fund-ing (POSTD234966SANC), “Ayuda a Talento AECC 2023”. We wouldlike to thank the Scientific Services of the Aragon Institute of HealthSciences (IACS), specifically the Flow Cytometry Service. The authorswould like to acknowledge the use of Servicio General de Apoyo a laInvestigación- SAI, Universidad de Zaragoza.Peer reviewedWiley-VCHAsociación Española Contra el CáncerInstituto Aragonés de Ciencias de la SaludUniversidad de ZaragozaFundación Española para el Estudio y Terapéutica de la Enfermedad de GaucherConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202520252025info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/399235reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.1002/jimd.70061Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3992352026-05-22T06:33:51Z
dc.title.none.fl_str_mv Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
title Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
spellingShingle Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
Serrano-Gonzalo, Irene
Biomarkers
Bone disease
Exosomes
Gaucher disease
miRNA
title_short Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
title_full Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
title_fullStr Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
title_full_unstemmed Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
title_sort Expression profiles of exosomal miRNAs in Gaucher patients and their association with severity of bone involvement
dc.creator.none.fl_str_mv Serrano-Gonzalo, Irene
López de Frutos, Laura
Sancho‐Albero, María
Roca-Espiau, Mercedes
Köhler, Ralf
Giraldo, Pilar
author Serrano-Gonzalo, Irene
author_facet Serrano-Gonzalo, Irene
López de Frutos, Laura
Sancho‐Albero, María
Roca-Espiau, Mercedes
Köhler, Ralf
Giraldo, Pilar
author_role author
author2 López de Frutos, Laura
Sancho‐Albero, María
Roca-Espiau, Mercedes
Köhler, Ralf
Giraldo, Pilar
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Asociación Española Contra el Cáncer
Instituto Aragonés de Ciencias de la Salud
Universidad de Zaragoza
Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Biomarkers
Bone disease
Exosomes
Gaucher disease
miRNA
topic Biomarkers
Bone disease
Exosomes
Gaucher disease
miRNA
description The datasets generated during the current study are not publicly availablebut are available from the corresponding author on reasonable request.
publishDate 2025
dc.date.none.fl_str_mv 2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/399235
url http://hdl.handle.net/10261/399235
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.1002/jimd.70061
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley-VCH
publisher.none.fl_str_mv Wiley-VCH
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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