High-throughput sequencing reveals that microRNA from exosomes as potential pathogenetic factors and biomarkers of moyamoya disease

Abstract

Background: As a progressive cerebrovascular disease, moyamoya disease is a common cause of stroke in children and adults; however, early biomarkers and the pathogenesis of moyamoya disease remain poorly understood. Objectives: We aimed to diagnose moyamoya disease by identifying noninvasive rapid liquid diagnostic biomarkers using plasma exosomal microRNAs (miRNAs).Materials and Methods: For the first time, frozen plasma samples from moyamoya disease patients, next-generation high-throughput sequencing technologies, real-time quantitative PCR, gene ontology analysis and Kyoto Encyclopaedia of Genes and Genomes pathway analysis analyses of exosomal miRNA-related target gene functions were used to identify plasma exosomal miRNAs as potential biomarkers of moyamoya disease. The area under the curve of the receiver operating characteristic (ROC) curve was used to evaluate the sensitivity and specificity of biomarkers for predicting eventsResults: The target genes of the different expression miRNA showed that they were mainly enriched in axon guidance, regulation of the actin cytoskeleton and the MAPK signalling pathway. Ten miRNAs (miR-1306-5p, miR-196b-5p, miR-19a-3p, miR-22-3p, miR-320b, miR-34a-5p, miR-485-3p, miR-489-3p, miR-501-3p, and miR-487-3p) were found to be associated with the most sensitive and specific pathways for predicting moyamoya disease. Conclusions: Plasma exosomal miRNAs could be used to construct an accurate predictive model for improving moyamoya disease detection.