Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia

Friedreich's ataxia (FRDA) is an inherited neurodegenerative disorder frequently complicated by hypertrophic cardiomyopathy (HCM), a major cause of morbidity and mortality in these patients. Conventional protein biomarkers, such as high-sensitivity troponin or collagen turnover markers, provide...

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Autores: Ibáñez-Cabellos, JS, Baviera-Muñoz, R, Alemany-Perna, B, Sivera, R, Bataller, L, Cesar, S, González-Cabo, P, García-Giménez, JL, Pallardó, FV, Seco-Cervera, M
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2026
País:España
Recursos:INCLIVA
Repositorio:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
OAI Identifier:oai:dnet:incliva_____::d37f4b08901df9f3e870725567dad5f5
Acesso em linha:https://incliva.portalinvestigacion.com/publicaciones/20970
Access Level:acceso abierto
Palavra-chave:Epigenetics
FRDA
MiRNAs
Biomarkers
Cardiopathy
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spelling Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxiaIbáñez-Cabellos, JSBaviera-Muñoz, RAlemany-Perna, BSivera, RBataller, LCesar, SGonzález-Cabo, PGarcía-Giménez, JLPallardó, FVSeco-Cervera, MEpigeneticsFRDAMiRNAsBiomarkersCardiopathyFriedreich's ataxia (FRDA) is an inherited neurodegenerative disorder frequently complicated by hypertrophic cardiomyopathy (HCM), a major cause of morbidity and mortality in these patients. Conventional protein biomarkers, such as high-sensitivity troponin or collagen turnover markers, provide only modest diagnostic accuracy, highlighting the need for more sensitive tools. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers, but independent validation in FRDA remains limited. We analyzed a cohort of FRDA patients (n = 34) and age-, sex-, and race-matched healthy controls (n = 34). Expression of a previously proposed miRNA signature was evaluated in plasma using RT-qPCR, with normalization to miR-16-5p, replicating prior methodology. Echocardiographic parameters were compared across subgroups. Associations between differential miRNA expression, comorbidities (diabetes mellitus, cardiomyopathy), and echocardiographic measures were evaluated. Receiver Operating Characteristic (ROC) curves and multivariable logistic regression assessed diagnostic performance. Five of seven candidate miRNAs were validated as differentially expressed in FRDA compared with controls. Among patients, miR-128-3p, miR-130b-5p, miR-151a-5p, miR-330-3p, and miR-142-3p were significantly up-regulated in those with diabetes. For cardiomyopathy, both miR-323a-3p (previously described by our group) and miR-625-3p showed strong associations. A multivariable model combining miR-323a-3p and miR-625-3p achieved promising discriminative performance for HCM (Area Under the Curve (AUC) = 0.84; sensitivity 80%; specificity 71.4%), outperforming traditional protein biomarkers. This two-miRNA panel offers robust non-invasive prediction of HCM in FRDA and highlights metabolic miRNAs as dual biomarkers for diabetes comorbidity. Prospective longitudinal studies and development of standardized diagnostic kits are warranted to integrate miRNA profiling into FRDA clinical care.NATURE PORTFOLIO2026info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://incliva.portalinvestigacion.com/publicaciones/20970Scientific ReportsISSN: 20452322reponame:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVAinstname:INCLIVAInglésinfo:eu-repo/semantics/openAccessoai:dnet:incliva_____::d37f4b08901df9f3e870725567dad5f52026-06-07T16:35:31Z
dc.title.none.fl_str_mv Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
title Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
spellingShingle Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
Ibáñez-Cabellos, JS
Epigenetics
FRDA
MiRNAs
Biomarkers
Cardiopathy
title_short Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
title_full Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
title_fullStr Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
title_full_unstemmed Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
title_sort Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia
dc.creator.none.fl_str_mv Ibáñez-Cabellos, JS
Baviera-Muñoz, R
Alemany-Perna, B
Sivera, R
Bataller, L
Cesar, S
González-Cabo, P
García-Giménez, JL
Pallardó, FV
Seco-Cervera, M
author Ibáñez-Cabellos, JS
author_facet Ibáñez-Cabellos, JS
Baviera-Muñoz, R
Alemany-Perna, B
Sivera, R
Bataller, L
Cesar, S
González-Cabo, P
García-Giménez, JL
Pallardó, FV
Seco-Cervera, M
author_role author
author2 Baviera-Muñoz, R
Alemany-Perna, B
Sivera, R
Bataller, L
Cesar, S
González-Cabo, P
García-Giménez, JL
Pallardó, FV
Seco-Cervera, M
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Epigenetics
FRDA
MiRNAs
Biomarkers
Cardiopathy
topic Epigenetics
FRDA
MiRNAs
Biomarkers
Cardiopathy
description Friedreich's ataxia (FRDA) is an inherited neurodegenerative disorder frequently complicated by hypertrophic cardiomyopathy (HCM), a major cause of morbidity and mortality in these patients. Conventional protein biomarkers, such as high-sensitivity troponin or collagen turnover markers, provide only modest diagnostic accuracy, highlighting the need for more sensitive tools. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers, but independent validation in FRDA remains limited. We analyzed a cohort of FRDA patients (n = 34) and age-, sex-, and race-matched healthy controls (n = 34). Expression of a previously proposed miRNA signature was evaluated in plasma using RT-qPCR, with normalization to miR-16-5p, replicating prior methodology. Echocardiographic parameters were compared across subgroups. Associations between differential miRNA expression, comorbidities (diabetes mellitus, cardiomyopathy), and echocardiographic measures were evaluated. Receiver Operating Characteristic (ROC) curves and multivariable logistic regression assessed diagnostic performance. Five of seven candidate miRNAs were validated as differentially expressed in FRDA compared with controls. Among patients, miR-128-3p, miR-130b-5p, miR-151a-5p, miR-330-3p, and miR-142-3p were significantly up-regulated in those with diabetes. For cardiomyopathy, both miR-323a-3p (previously described by our group) and miR-625-3p showed strong associations. A multivariable model combining miR-323a-3p and miR-625-3p achieved promising discriminative performance for HCM (Area Under the Curve (AUC) = 0.84; sensitivity 80%; specificity 71.4%), outperforming traditional protein biomarkers. This two-miRNA panel offers robust non-invasive prediction of HCM in FRDA and highlights metabolic miRNAs as dual biomarkers for diabetes comorbidity. Prospective longitudinal studies and development of standardized diagnostic kits are warranted to integrate miRNA profiling into FRDA clinical care.
publishDate 2026
dc.date.none.fl_str_mv 2026
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://incliva.portalinvestigacion.com/publicaciones/20970
url https://incliva.portalinvestigacion.com/publicaciones/20970
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv NATURE PORTFOLIO
publisher.none.fl_str_mv NATURE PORTFOLIO
dc.source.none.fl_str_mv Scientific Reports
ISSN: 20452322
reponame:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname:INCLIVA
instname_str INCLIVA
reponame_str r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
collection r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
repository.name.fl_str_mv
repository.mail.fl_str_mv
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