Circulating miRNome profiling in Moyamoya disease-discordant monozygotic twins and endothelial microRNA expression analysis using iPS cell line

BMC Medical Genomics
Haruto UchinoKiyohiro Houkin

Abstract

Moyamoya disease (MMD) is characterized by progressive stenosis of intracranial arteries in the circle of Willis with unknown etiology even after the identification of a Moyamoya susceptible gene, RNF213. Recently, differences in epigenetic regulations have been investigated by a case-control study in MMD. Here, we employed a disease discordant monozygotic twin-based study design to unmask potential confounders. Circulating genome-wide microRNA (miRNome) profiling was performed in MMD-discordant monozygotic twins, non-twin-MMD patients, and non-MMD healthy volunteers by microarray followed by qPCRvalidation, using blood samples. Differential plasma-microRNAs were further quantified in endothelial cells differentiated from iPS cell lines (iPSECs) derived from another independent non-twin cohort. Lastly, their target gene expression in the iPSECs was analyzed. Microarray detected 309 plasma-microRNAs in MMD-discordant monozygotic twins that were also detected in the non-twin cohort. Principal component analysis of the plasma-microRNA expression level demonstrated distinct 2 groups separated by MMD and healthy control in the twin- and non-twin cohorts. Of these, differential upregulations of hsa-miR-6722-3p/- 328-3p were validated...Continue Reading

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Citations

Dec 31, 2020·Diagnostics·Anna RocchiIsabella Spinetti
Sep 30, 2020·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Kikutaro TokairinKiyohiro Houkin
Feb 12, 2021·International Journal of Molecular Sciences·Yao-Ching FangYong-Kwang Tu
Sep 17, 2021·Translational Stroke Research·R MertensP Vajkoczy

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Datasets Mentioned

BETA
GSE100488

Methods Mentioned

BETA
PCA
PCR
FACS

Software Mentioned

miRNome
IPA
IPA®
miRmap

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