Analysis of microRNA levels in fibroblast of Ataxia Telangiectasia

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 miRNA play a role in various biological functions including proliferation, differentiation, and DNA repair. To investigate the differential expression of miRNAs in samples from AT patients with the aim of identifying miRNA patterns and to investigate how these patterns are related to the disease. We performed short a small RNA-seq analysis on fibroblasts to compare the miRNA expression profile between AT patients and controls. 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. Fibroblasts were obtained from three additional AT participants (ATF1-3; 3 males) and three healthy controls (1 male).