Profile of plasma microRNAs as a potential biomarker of Wilson&apos

[EN] Background: Wilson's disease (WD) is a rare condition resulting from autosomal recessive mutations in ATP7B, a copper transporter, manifesting with hepatic, neurological, and psychiatric symptoms. Timely diagnosis and appropriate treatment yield a positive prognosis, while delayed iden...

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Autores: Sánchez-Monteagudo, Ana, Ripollés, Edna, Murillo, Oihana, Domènech, Sofia, Álvarez-Sauco, María, Girona, Eva, Sastre-Bataller, Isabel, Bono, Ariadna, García-Villarreal, Luis, Tugores, Antonio, García-García, Francisco, González-Aseguinolaza, Gloria, Berenguer, Marina, Espinós-Armero, Carmen
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universitat Politècnica de València (UPV)
Repositorio:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
Idioma:inglés
OAI Identifier:oai:riunet.upv.es:10251/221646
Acceso en línea:https://riunet.upv.es/handle/10251/221646
Access Level:acceso abierto
Palabra clave:Drug monitoring
Prognosis
MiR-122-5p
MiR-192-5p
MiR-885-5p
id ES_ceed0ed92d682b451ae810a67ef941ed
oai_identifier_str oai:riunet.upv.es:10251/221646
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Profile of plasma microRNAs as a potential biomarker of Wilson&apos
s disease
title Profile of plasma microRNAs as a potential biomarker of Wilson&apos
spellingShingle Profile of plasma microRNAs as a potential biomarker of Wilson&apos
Sánchez-Monteagudo, Ana
Drug monitoring
Prognosis
MiR-122-5p
MiR-192-5p
MiR-885-5p
title_short Profile of plasma microRNAs as a potential biomarker of Wilson&apos
title_full Profile of plasma microRNAs as a potential biomarker of Wilson&apos
title_fullStr Profile of plasma microRNAs as a potential biomarker of Wilson&apos
title_full_unstemmed Profile of plasma microRNAs as a potential biomarker of Wilson&apos
title_sort Profile of plasma microRNAs as a potential biomarker of Wilson&apos
dc.creator.none.fl_str_mv Sánchez-Monteagudo, Ana
Ripollés, Edna
Murillo, Oihana
Domènech, Sofia
Álvarez-Sauco, María
Girona, Eva
Sastre-Bataller, Isabel
Bono, Ariadna
García-Villarreal, Luis
Tugores, Antonio
García-García, Francisco
González-Aseguinolaza, Gloria
Berenguer, Marina
Espinós-Armero, Carmen
author Sánchez-Monteagudo, Ana
author_facet Sánchez-Monteagudo, Ana
Ripollés, Edna
Murillo, Oihana
Domènech, Sofia
Álvarez-Sauco, María
Girona, Eva
Sastre-Bataller, Isabel
Bono, Ariadna
García-Villarreal, Luis
Tugores, Antonio
García-García, Francisco
González-Aseguinolaza, Gloria
Berenguer, Marina
Espinós-Armero, Carmen
author_role author
author2 Ripollés, Edna
Murillo, Oihana
Domènech, Sofia
Álvarez-Sauco, María
Girona, Eva
Sastre-Bataller, Isabel
Bono, Ariadna
García-Villarreal, Luis
Tugores, Antonio
García-García, Francisco
González-Aseguinolaza, Gloria
Berenguer, Marina
Espinós-Armero, Carmen
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Generalitat Valenciana
Instituto de Salud Carlos III
Ministerio de Ciencia e Innovación
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas
Repositorio Institucional de la Universitat Politècnica de València Riunet
dc.subject.none.fl_str_mv Drug monitoring
Prognosis
MiR-122-5p
MiR-192-5p
MiR-885-5p
topic Drug monitoring
Prognosis
MiR-122-5p
MiR-192-5p
MiR-885-5p
description [EN] Background: Wilson's disease (WD) is a rare condition resulting from autosomal recessive mutations in ATP7B, a copper transporter, manifesting with hepatic, neurological, and psychiatric symptoms. Timely diagnosis and appropriate treatment yield a positive prognosis, while delayed identification and/or insufficient therapy lead to a poor outcome. Our aim was to establish a prognostic method for WD by characterising biomarkers based on circulating microRNAs. Methods: We conducted investigations across three cohorts: discovery, validation (comprising unrelated patients), and follow-up (revisiting the discovery cohort 3 years later). All groups were compared to age- and gender-matched controls. Plasma microRNAs were analysed via RNA sequencing in the discovery cohort and subsequently validated using quantitative PCR in all three cohorts. To assess disease progression, we examined the microRNA profile in Atp7b-/- mice, analysing serum samples from 6 to 44 weeks of age and liver samples at three time points: 20, 30, and 40 weeks of age. Results: In patients, elevated levels of the signature microRNAs (miR-122-5p, miR-192-5p, and miR-885-5p) correlated with serum activities of aspartate transaminase, alanine aminotransferase and gamma-glutamyl transferase. In Atp7b-/- mice, levels of miR-122-5p and miR-192-5p (miR-885-5p lacking a murine orthologue) increased from 12 weeks of age in serum, while exhibiting fluctuations in the liver, possibly attributable to hepatocyte regenerative capacity post-injury and the release of hepatic microRNAs into the bloodstream. Conclusions: The upregulation of the signature miR-122-5p, miR-192-5p, and miR-885-5p in patients and their correlation with liver disease progression in WD mice support their potential as biomarkers of WD.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024-10-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://riunet.upv.es/handle/10251/221646
url https://riunet.upv.es/handle/10251/221646
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Agencia Estatal de Investigación http://dx.doi.org/10.13039/501100011033 Plan Estatal de Investigación Científica y Técnica y de Innovación 2021-2023 PID2021-124455OB-I00 IMPACTO DEL DAÑO HEPATICO DESARROLLADO EN LA ENFEMEDAD DE WILSON SOBRE LA SEGURIDAD Y EFICACIA DE LA TER. GEN. E IDENTIFICACION DE MECANISMOS MOLECULARES DE DAÑO POR CU
Generalitat Valenciana https://doi.org/10.13039/501100003359 CIACIF%2F2021%2F252
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18%2F00147
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI21%2F00103
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI21%2F00313
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas CIBERehd CB06%2F04%2F0065
Ministerio de Ciencia e Innovación http://dx.doi.org/10.13039/501100004837 PID2021-124455OB-I00 to GGA
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Reconocimiento (by)
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Reconocimiento (by)
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer-Verlag
publisher.none.fl_str_mv Springer-Verlag
dc.source.none.fl_str_mv reponame:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname:Universitat Politècnica de València (UPV)
instname_str Universitat Politècnica de València (UPV)
reponame_str RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
collection RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Profile of plasma microRNAs as a potential biomarker of Wilson&aposs diseaseSánchez-Monteagudo, AnaRipollés, EdnaMurillo, OihanaDomènech, SofiaÁlvarez-Sauco, MaríaGirona, EvaSastre-Bataller, IsabelBono, AriadnaGarcía-Villarreal, LuisTugores, AntonioGarcía-García, FranciscoGonzález-Aseguinolaza, GloriaBerenguer, MarinaEspinós-Armero, CarmenDrug monitoringPrognosisMiR-122-5pMiR-192-5pMiR-885-5p[EN] Background: Wilson's disease (WD) is a rare condition resulting from autosomal recessive mutations in ATP7B, a copper transporter, manifesting with hepatic, neurological, and psychiatric symptoms. Timely diagnosis and appropriate treatment yield a positive prognosis, while delayed identification and/or insufficient therapy lead to a poor outcome. Our aim was to establish a prognostic method for WD by characterising biomarkers based on circulating microRNAs. Methods: We conducted investigations across three cohorts: discovery, validation (comprising unrelated patients), and follow-up (revisiting the discovery cohort 3 years later). All groups were compared to age- and gender-matched controls. Plasma microRNAs were analysed via RNA sequencing in the discovery cohort and subsequently validated using quantitative PCR in all three cohorts. To assess disease progression, we examined the microRNA profile in Atp7b-/- mice, analysing serum samples from 6 to 44 weeks of age and liver samples at three time points: 20, 30, and 40 weeks of age. Results: In patients, elevated levels of the signature microRNAs (miR-122-5p, miR-192-5p, and miR-885-5p) correlated with serum activities of aspartate transaminase, alanine aminotransferase and gamma-glutamyl transferase. In Atp7b-/- mice, levels of miR-122-5p and miR-192-5p (miR-885-5p lacking a murine orthologue) increased from 12 weeks of age in serum, while exhibiting fluctuations in the liver, possibly attributable to hepatocyte regenerative capacity post-injury and the release of hepatic microRNAs into the bloodstream. Conclusions: The upregulation of the signature miR-122-5p, miR-192-5p, and miR-885-5p in patients and their correlation with liver disease progression in WD mice support their potential as biomarkers of WD.are in debt with the patients and their families for agreeing to participate in this study. The authors also thank Aida Regi-Cosculluela and Faustino Gimenez-Felices, Spanish association of patients with Wilson disease (AEFE Wilson), always willing to bring science closer to patients and their families. This study has been funded by the Fundacio Per Amor a l'Art (FPAA); by the Instituto de Salud Carlos III (ISCIII) through the projects PI18/00147 and PI21/00103 to CE, PI21/00313 to OM, and INT20/00061 to MB, and co-funded by the European Union; by MCIN/AEI/https://doi.org/10.13039/501100011033 and by "ERDF A way of, making Europe" through the project PID2021-124455OB-I00 to GGA; and by the Centro de Investigacion Biomedica en Red (CIBER) through the project CB06/04/0065 to MB. Part of the equipment employed in this work was funded by Generalitat Valenciana and co-financed with ERDF (OP ERDF of Comunitat Valenciana 2014-2020). ER has a PhD fellowship from the Generalitat Valenciana [CIACIF/2021/252].Springer-VerlagGeneralitat ValencianaInstituto de Salud Carlos IIIMinisterio de Ciencia e InnovaciónCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y DigestivasRepositorio Institucional de la Universitat Politècnica de València Riunet20242024-10-01journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://riunet.upv.es/handle/10251/221646reponame:RiuNet. Repositorio Institucional de la Universitat Politécnica de Valénciainstname:Universitat Politècnica de València (UPV)InglésengAgencia Estatal de Investigación http://dx.doi.org/10.13039/501100011033 Plan Estatal de Investigación Científica y Técnica y de Innovación 2021-2023 PID2021-124455OB-I00 IMPACTO DEL DAÑO HEPATICO DESARROLLADO EN LA ENFEMEDAD DE WILSON SOBRE LA SEGURIDAD Y EFICACIA DE LA TER. GEN. E IDENTIFICACION DE MECANISMOS MOLECULARES DE DAÑO POR CUGeneralitat Valenciana https://doi.org/10.13039/501100003359 CIACIF%2F2021%2F252Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18%2F00147Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI21%2F00103Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI21%2F00313Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas CIBERehd CB06%2F04%2F0065Ministerio de Ciencia e Innovación http://dx.doi.org/10.13039/501100004837 PID2021-124455OB-I00 to GGAopen accesshttp://purl.org/coar/access_right/c_abf2Reconocimiento (by)http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:riunet.upv.es:10251/2216462026-06-13T07:49:27Z
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