Journal of applied genetics · 2026
Non-coding RNAs in peripheral vascular diseases - a snRNA study.
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Zalewski Daniel P, Feldo Marcin, Stępniewski Andrzej, Łuszczak Joanna, Kocki Janusz, Bogucka-Kocka Anna
Аннотация
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.