Year: 2026
Type: article
Study design: Observational Study
Abstract: Lower extremity artery disease (LEAD), abdominal aortic aneurysm (AAA), and chronic venous disease (CVD) are frequently underdiagnosed vascular conditions that contribute significantly to morbidity, mortality, and diminished quality of life, representing a considerable public health burden. The discovery of novel molecular biomarkers is crucial to improving early diagnosis, enabling accurate risk stratification, uncovering disease mechanisms, and facilitating the development of targeted therapies.This study aimed to investigate alterations in small nuclear RNAs (snRNAs) in peripheral blood mononuclear cells (PBMCs) of patients with LEAD, AAA, and CVD. The snRNA expression profiles were analyzed using snRNA-seq data and the DESeq2 package. In parallel, miRNA-seq data were used to identify differentially expressed microRNAs (miRNAs) associated with snRNA dysregulation.Using a strict selection criterion, we identified 4 (RNU6-4P, RNU6-18P, RNU6-36P, and RNU2-48P) and 2 (RNVU1-19 and RNU1-146P) dysregulated snRNAs in patients with LEAD and CVD, respectively. Three miRNA-snRNA interactions involving miRNAs differentially expressed in these diseases were identified and confirmed in silico using the IntaRNA platform. Genetic variants located within dysregulated snRNAs indicate a potential functional association between selected snRNAs and vascular biology, particularly in relation to platelet function, blood pressure regulation, and smoking.Obtained findings underscore the potential of snRNAs as novel biomarkers and offer insights into their possible involvement in the vascular pathophysiological mechanisms underlying LEAD and CVD.
Source: Journal of Applied Genetics
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,790
Award: G496129201
OpenAlex ID: W7165153587