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Open AccessArticle

The Impact of Moyamoya Disease and RNF213 Mutations on the Spectrum of Plasma Protein and MicroRNA

1
Department of Neurology, National Taiwan University Hospital, Taipei 10002, Taiwan
2
Institute for Systems Biology, Seattle, WA 98109, USA
3
Department of Neurosurgery, National Taiwan University Hospital, Taipei 10002, Taiwan
*
Author to whom correspondence should be addressed.
They declare the equal contribution.
J. Clin. Med. 2019, 8(10), 1648; https://doi.org/10.3390/jcm8101648
Received: 5 September 2019 / Revised: 30 September 2019 / Accepted: 8 October 2019 / Published: 10 October 2019
(This article belongs to the Section Cardiology)
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. View Full-Text
Keywords: moyamoya disease; extracellular vesicle; RNAseq; biomarker; cerebrovascular disorder moyamoya disease; extracellular vesicle; RNAseq; biomarker; cerebrovascular disorder
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Lee, M.-J.; Fallen, S.; Zhou, Y.; Baxter, D.; Scherler, K.; Kuo, M.-F.; Wang, K. The Impact of Moyamoya Disease and RNF213 Mutations on the Spectrum of Plasma Protein and MicroRNA. J. Clin. Med. 2019, 8, 1648.

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