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

ABSTRACT:

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 subseque

SUBMITTER: Sanchez-Monteagudo A 

PROVIDER: S-EPMC11415402 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature