MicroRNA dysregulation in ataxia telangiectasia. in Frontiers in immunology / Front Immunol. 2024 Aug 19;15:1444130. doi: 10.3389/fimmu.2024.1444130. eCollection 2024.

2024
ARPA Piemonte

Tipo pubblicazione

Journal Article

Autori/Collaboratori (24)Vedi tutti...

Cirillo E
Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, Naples, Italy.
Tarallo A
Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, Naples, Italy.
Toriello E
Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, Naples, Italy.

et alii...

Abstract

INTRODUCTION: Ataxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the underlying mechanisms of complex rare human diseases, as miRNAs play a role in various biological functions including proliferation, differentiation, and DNA repair. In this study, we investigate the differential expression of miRNAs in samples from AT patients to identify miRNA patterns and analyze how these patterns are related to the disease. METHODS: We enrolled 20 AT patients (mean age 17.7 ± 9.6 years old) and collected clinical and genetic data. We performed short non-coding RNA-seq analysis on peripheral blood mononuclear cells (PBMCs) and fibroblasts to compare the miRNA expression profile between AT patients and controls. RESULTS: We observed 42 differentially expressed (DE)-miRNAs in blood samples and 26 in fibroblast samples. Among these, three DE-miRNAs, miR-342-3p, miR-30a-5p, and miR-195-5p, were further validated in additional AT samples, confirming their dysregulation. DISCUSSION: We identified an AT-related miRNA signature in blood cells and fibroblast samples collected from a group of AT patients. We also predicted several dysregulated pathways, primarily related to cancer, immune system control, or inflammatory processes. The findings suggest that miRNAs may provide insights into the pathophysiology and tumorigenesis of AT and have the potential to serve as useful biomarkers in cancer research.

Accesso banca dati bibliografica

PMID : 39224604

DOI : 10.3389/fimmu.2024.1444130

Keywords

Humans; Ataxia Telangiectasia/genetics; MicroRNAs/genetics/blood; Male; Female; Adult; Adolescent; Child; Young Adult; Leukocytes, Mononuclear/metabolism; Fibroblasts/metabolism; Gene Expression Profiling; Gene Expression Regulation; DNA repair; ataxia telangiectasia; cancer; immunodeficiency; microRNA;