MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers

16 p.-13 fig.-3 tab.

Bibliographic Details
Authors: Cuevas, Eva P., Madruga, Enrique, Valenzuela-Martínez, Ignacio, Ramírez, David, Gil, Carmen, Nagaraj, Siranjeevi, Martín-Requero, Ángeles, Martínez Gil, Ana
Format: article
Status:Published version
Publication Date:2025
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/388401
Online Access:http://hdl.handle.net/10261/388401
Access Level:Open access
Keyword:miRNA
ALS
Biomarker
Lymphoblasts
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spelling MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkersCuevas, Eva P.Madruga, EnriqueValenzuela-Martínez, IgnacioRamírez, DavidGil, CarmenNagaraj, SiranjeeviMartín-Requero, ÁngelesMartínez Gil, AnamiRNAALSBiomarkerLymphoblasts16 p.-13 fig.-3 tab.MicroRNAs (miRNAs) are a class of small, non-coding RNAs involved in different cellular functions that have emerged as key regulators of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS). ALS is a fatal disease that lacks of not only effective treatments, but also presents delays in its diagnosis, since reliable clinical biomarkers are unavailable. In recent years, advancements in high-throughput sequencing strategies have led to the identification of novel ALS biomarkers, facilitating earlier diagnosis and assessment of treatment efficacy. Since immortalized lymphocytes obtained from peripheral blood are a suitable model to study pathological features of ALS, we employed these samples with the aim of characterize the dysregulated miRNAs in ALS patients. Next-generation sequencing (NGS) was utilized in order to analyze the expression profiles of miRNAs in immortalized lymphocytes from healthy controls, sporadic ALS (sALS), and familial ALS with mutations in superoxide dismutase 1 (SOD1-ALS). The screening analysis of the NGS data identified a set of dysregulated miRNAs, of which nine candidates were selected for qRT-PCR validation, identifying for the first time the possible importance of hsa-miR-6821-5p as a potential ALS biomarker. Furthermore, the up-regulated miRNAs identified are predicted to have direct or indirect interactions with genes closely related to ALS, such as SIGMAR1, HNRNPA1 and TARDBP. Additionally, by Metascape enrichment analysis, we found the VEGFA/VEGFR2 signaling pathway, previously implicated in neuroprotective effects in ALS, as a candidate pathway for further analyses.This work was supported by La Caixa and Luzón Foundation [grant number HR21-00931], and the Spanish Health Institute Carlos III [CIBERNED, grant number CB18/05/00040]. S. N. is funded with a postdoctoral fellowship from the FNRS, Belgium. E.M. is funded by MCIU (grant FPU20/03743).Peer reviewedElsevierFundación la CaixaFundación Francisco LuzónInstituto de Salud Carlos IIIMinisterio de Ciencia, Innovación y Universidades (España)Cuevas, Eva P. [0000-0001-6477-1283]Madruga, Enrique [0000-0002-7012-9737]Valenzuela-Martínez, Ignacio [0000-0001-8538-8320]Ramírez, David [0000-0003-0002-1189]Gil, Carmen [0000-0002-3882-6081]Nagaraj, Siranjeevi [0000-0001-8132-491X]Martín-Requero, Ángeles [0000-0002-3416-9440]Martínez Gil, Ana [0000-0002-2707-8110]Consejo 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/publishedVersionhttp://hdl.handle.net/10261/388401reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.1016/j.nbd.2025.106871Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3884012026-05-22T06:33:51Z
dc.title.none.fl_str_mv MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
title MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
spellingShingle MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
Cuevas, Eva P.
miRNA
ALS
Biomarker
Lymphoblasts
title_short MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
title_full MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
title_fullStr MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
title_full_unstemmed MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
title_sort MicroRNA signature of lymphoblasts from amyotrophic lateral sclerosis patients as potential clinical biomarkers
dc.creator.none.fl_str_mv Cuevas, Eva P.
Madruga, Enrique
Valenzuela-Martínez, Ignacio
Ramírez, David
Gil, Carmen
Nagaraj, Siranjeevi
Martín-Requero, Ángeles
Martínez Gil, Ana
author Cuevas, Eva P.
author_facet Cuevas, Eva P.
Madruga, Enrique
Valenzuela-Martínez, Ignacio
Ramírez, David
Gil, Carmen
Nagaraj, Siranjeevi
Martín-Requero, Ángeles
Martínez Gil, Ana
author_role author
author2 Madruga, Enrique
Valenzuela-Martínez, Ignacio
Ramírez, David
Gil, Carmen
Nagaraj, Siranjeevi
Martín-Requero, Ángeles
Martínez Gil, Ana
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Fundación la Caixa
Fundación Francisco Luzón
Instituto de Salud Carlos III
Ministerio de Ciencia, Innovación y Universidades (España)
Cuevas, Eva P. [0000-0001-6477-1283]
Madruga, Enrique [0000-0002-7012-9737]
Valenzuela-Martínez, Ignacio [0000-0001-8538-8320]
Ramírez, David [0000-0003-0002-1189]
Gil, Carmen [0000-0002-3882-6081]
Nagaraj, Siranjeevi [0000-0001-8132-491X]
Martín-Requero, Ángeles [0000-0002-3416-9440]
Martínez Gil, Ana [0000-0002-2707-8110]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv miRNA
ALS
Biomarker
Lymphoblasts
topic miRNA
ALS
Biomarker
Lymphoblasts
description 16 p.-13 fig.-3 tab.
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/10261/388401
url http://hdl.handle.net/10261/388401
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.1016/j.nbd.2025.106871
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
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
_version_ 1869405777755635712
score 15,812429

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