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Fig. 1 | BMC Medical Genomics

Fig. 1

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

Fig. 1

Family pedigree, angiographical features, and plasma-microRNA expression in the Moyamoya disease-discordant monozygotic twins. a Family pedigree tree demonstrating the family members of the MMD-discordant monozygotic twins. Individuals I-1 and II-3 had never participated in previous linkage studies. The affected twin (II-3) experienced an epileptic seizure and transient paraparesis when crying at 3 years of age and underwent EC/IC bypass. She did not develop any recurrent stroke, including TIA after bypass surgeries. The non-affected twin (II-2) underwent MRI and MR angiography (MRA) scans when she was 3 and 12 years old without any evidence of cerebrovascular diseases, including MMD. Individual I-1 was diagnosed as MMD when he was 9 years old and underwent bypass surgeries in another hospital. Individuals I-2 and II-1 also provided blood samples and had MRI/MRA scans in our hospital. Their MRI/A showed no evidence of MMD (data not shown). b-c MRA demonstrates cerebral arteries of the affected twin (II-3) when she was 12 years old (b), showing severe stenosis of ICAs and proximal MCAs on both hemispheres and complete disappearance of ACA on the right hemisphere, indicating MRA grade 3 on both hemispheres. Distal portions of bilateral MCAs are depicted by blood supplies from EC/IC bypasses via superficial temporal arteries, whereas MRA of the non-affected twin (II-2) when she was 12 years old demonstrates no steno/occlusive change in the cerebral arteries (c). “Rt” indicates the right hemisphere. d Scatter plots demonstrate the plasma-microRNA expression for 309 plasma-microRNAs detected in the MMD-discordant monozygotic twins by microarray. Horizontal and vertical axes indicate normalized log2-microRNA expression signals for each microRNA in the affected and non-affected twins, respectively. Red dots indicate microRNAs exhibiting a 0.26- or greater log2-fold change and blue dots indicate microRNAs exhibiting a − 0.26 or less log2-fold change in the affected twin relative to the non-affected twin. Black dots indicate microRNAs exhibiting log2-fold change in between − 0.26 and 0.26

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