Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease

Brain Research
Atsushi KanokeTeiji Tominaga

Abstract

Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease with an unknown etiology. Recent genome-wide and locus-specific association studies identified the RNF213 gene (RNF213) as an important susceptibility gene of MMD among East Asian populations; however, the mechanism by which an abnormality in RNF213 leads to MMD has not yet been elucidated. Therefore, we herein generated Rnf213-knock-in mice (RNF213-KI) expressing a missense mutation in mouse Rnf213, p. R4828K, on Exon 61, corresponding to human RNF213, p. R4859K, on Exon 60, in MMD patients, and investigated whether they developed MMD. We assessed the temporal profile of intracranial arteries by 9.4-T magnetic resonance angiography (MRA) continuously in the same mouse up to 64 weeks of age. The ratios of the outer diameter of the internal carotid artery (ICA)/basilar artery (BA) and middle cerebral artery (MCA)/BA were evaluated histopathologically. The common carotid arteries (CCA) were sectioned and arterial wall thickness/thinness was evaluated by Elastica-Masson staining before and after CCA ligation, which selectively induced vascular hyperplasia. The results obtained showed that RNF213-KI grew normally, with no significant difference being observed in...Continue Reading

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Citations

Feb 6, 2016·Journal of Stroke·Oh Young BangSeung-Ki Kim
Oct 9, 2016·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Maki MukawaHiroyuki Akagawa
Oct 18, 2016·Chinese Medical Journal·Yong-Gang MaJi-Zong Zhao
Feb 28, 2018·Scientific Reports·Takaaki MorimotoAkio Koizumi
Jul 10, 2019·Neurologia Medico-chirurgica·Takeshi MikamiNobuhiro Mikuni
Oct 6, 2020·Curēus·Apurv GuptaFnu Sonia
Aug 8, 2020·Zhurnal voprosy neĭrokhirurgii imeni N. N. Burdenko·A A ShulginaD Yu Usachev
Oct 28, 2019·Translational Stroke Research·Oh Young BangAkio Koizumi
Jan 24, 2019·BioMed Research International·Jing Lin, Wenli Sheng
Nov 12, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Yue WangWanyang Liu
Mar 30, 2021·The Application of Clinical Genetics·Kirsten B Dorschel, John E Wanebo
May 12, 2021·Journal of Cellular Physiology·Ryosuke TashiroTeiji Tominaga
Sep 17, 2021·Translational Stroke Research·R MertensP Vajkoczy

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