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Profile of plasma microRNAs as a potential biomarker of Wilson's disease

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Sánchez-Monteagudo, A
  • Ripollés, E
  • Murillo, O
  • Domènech, S
  • Alvarez-Sauco, M
  • Girona, E
  • García-Villarreal, L
  • Tugores, A
  • González-Aseguinolaza, G
  • Espinós, C

Grupos

Abstract

BackgroundWilson'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.MethodsWe 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.ResultsIn 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.ConclusionsThe 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.

Datos de la publicación

ISSN/ISSNe:
0944-1174, 1435-5922

JOURNAL OF GASTROENTEROLOGY  SPRINGER JAPAN KK

Tipo:
Article
Páginas:
921-931
PubMed:
39060521
Factor de Impacto:
1,928 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 5

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Keywords

  • miR-122-5p; miR-192-5p; miR-885-5p; Prognosis; Drug monitoring

Campos de Estudio

Proyectos y Estudios Clínicos

Contrato de intensificación 2020. Marina Berenguer Haym

Investigador Principal: MARINA BERENGUER HAYM

INT20/00061 . INSTITUTO DE SALUD CARLOS III . 2021

Clinical studies, genetic basis and prognosis biomarkers in rare neurodegenerative diseases.

Investigador Principal: LUÍS BATALLER ALBEROLA

PI21/00103 . INSTITUTO DE SALUD CARLOS III . 2022

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