The Impact of Moyamoya Disease and RNF213 Mutations on the Spectrum of Plasma Protein and MicroRNA
Journal
Journal of clinical medicine
Journal Volume
8
Journal Issue
10
Pages
1648
Date Issued
2019-10-10
Author(s)
Abstract
Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by occlusion of bilateral internal carotid and intracerebral arteries with the compensatory growth of fragile small vessels. MMD patients develop recurrent infarctions in the basal ganglia and subcortical regions. Symptoms include transient ischemic attack or stroke, seizures, and headaches, which may occur suddenly or in a stepwise progression. Mutations in Ring Finger Protein 213 (RNF213), a Zinc ring finger protein, have been identified in some MMD patients but the etiology of MMD is still largely unknown. To gain insight into the pathophysiology of MMD, we characterized the impact of the RNF213 mutations on plasma protein and RNA profiles. Isobaric tags for relative and absolute quantitation and proximity extension assay were used to characterize the plasma proteome. Next generation sequencing-based small RNAseq was used to analyze the cell-free small RNAs in whole plasma and RNA encapsulated in extracellular vesicles. The changes of miRNAs and proteins identified are associated with signaling processes including angiogenesis and immune activities which may reflect the pathology and progression of MMD.
Subjects
RNAseq; biomarker; cerebrovascular disorder; extracellular vesicle; moyamoya disease
SDGs
Other Subjects
microRNA; protein; rnf213 protein; unclassified drug; Article; blood sampling; clinical article; clinical feature; controlled study; exosome; gene; gene mutation; genetic analysis; heterozygote; human; mass spectrometry; microarray analysis; moyamoya disease; next generation sequencing; rare disease; real time polymerase chain reaction; RNA sequence; rnf213 gene; spectrophotometry
Type
journal article