Abstract 77: Circulating miRNome in Moyamoya Discordant MZ Twins - Implications for Endothelial Biofunctions

Objective: We aim to investigate circulating genome-wide microRNA (miRNome) profiles in Moyamoya disease-discordant monozygotic (MZ) twins with the RNF213 founder mutation (rs112735431), since the etiology remains unclear even after the identification of RNF213. Methods: Circulating miRNome was screened in a pair of Moyamoya-discordant MZ twins and a validation cohort (unrelated 9 cases and 8 normal controls) using microarray and validated by quantitative real-time PCR. Differential plasma microRNAs were quantified in endothelial cells differentiated from iPS cell line (iPSECs) derived from unrelated 3 cases and 3 controls. Gene expressions targeted by the significant microRNAs in iPSECs was studied using published iPSEC-transcriptome and bioinformatics tool. Results: A total of 537 circulating microRNAs were detected in the Moyamoya-discordant MZ twins and the validation cohort. Unsupervised cluster analysis demonstrated 2 discrete miRNome, predominantly by disease, but the MZ twins showed similar miRNom...