Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease

Abstract Recent studies have implicated RNF213 mutations in the pathogenesis of moyamoya disease (MMD). However, the underlying mechanism of disease development is not fully elucidated. Nonetheless, a possible relationship between vascular morphology and hemodynamics related with MMD has been propos...

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Autores principales:	Sungjae An, Tackeun Kim, Chang Wan Oh, Jae Seung Bang, Si Un Lee, Jaehyuk Heo
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/4bfd68b3582e4d3688c558af7363321b
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spelling	oai:doaj.org-article:4bfd68b3582e4d3688c558af7363321b2021-12-02T15:10:02ZVascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease10.1038/s41598-019-45141-y2045-2322https://doaj.org/article/4bfd68b3582e4d3688c558af7363321b2019-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-019-45141-yhttps://doaj.org/toc/2045-2322Abstract Recent studies have implicated RNF213 mutations in the pathogenesis of moyamoya disease (MMD). However, the underlying mechanism of disease development is not fully elucidated. Nonetheless, a possible relationship between vascular morphology and hemodynamics related with MMD has been proposed. Here, we aimed to investigate the relationship between a variant of RNF213 and the morphology of the internal carotid artery (ICA). We enrolled bilateral MMD patients who had undergone genetic testing for RNF213. Patients were divided into mutant and wild-type groups. Six anatomy-specific three-dimensional coordinates were collected using magnetic-resonance angiography. From these, five vectors between two adjacent points and four angles between two adjacent vectors were calculated. The tortuosity was defined as the ratio between the actual and the linear length of the ICAs. Among 58 patients, 44 and 14 belonged to the mutant and wild-type groups, respectively. The tortuosity of ICAs was significantly lower in the mutant group (p = 0.010). The change in blood flow direction was more prominent in the wild-type group (p = 0.002). The tortuosity was significantly lower in MMD patients than normal controls (p < 0.001). Our results indicate that RNF213 could play a role in the lower tortuosity observed in patients with RNF213 mutation.Sungjae AnTackeun KimChang Wan OhJae Seung BangSi Un LeeJaehyuk HeoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sungjae An Tackeun Kim Chang Wan Oh Jae Seung Bang Si Un Lee Jaehyuk Heo Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease
description	Abstract Recent studies have implicated RNF213 mutations in the pathogenesis of moyamoya disease (MMD). However, the underlying mechanism of disease development is not fully elucidated. Nonetheless, a possible relationship between vascular morphology and hemodynamics related with MMD has been proposed. Here, we aimed to investigate the relationship between a variant of RNF213 and the morphology of the internal carotid artery (ICA). We enrolled bilateral MMD patients who had undergone genetic testing for RNF213. Patients were divided into mutant and wild-type groups. Six anatomy-specific three-dimensional coordinates were collected using magnetic-resonance angiography. From these, five vectors between two adjacent points and four angles between two adjacent vectors were calculated. The tortuosity was defined as the ratio between the actual and the linear length of the ICAs. Among 58 patients, 44 and 14 belonged to the mutant and wild-type groups, respectively. The tortuosity of ICAs was significantly lower in the mutant group (p = 0.010). The change in blood flow direction was more prominent in the wild-type group (p = 0.002). The tortuosity was significantly lower in MMD patients than normal controls (p < 0.001). Our results indicate that RNF213 could play a role in the lower tortuosity observed in patients with RNF213 mutation.
format	article
author	Sungjae An Tackeun Kim Chang Wan Oh Jae Seung Bang Si Un Lee Jaehyuk Heo
author_facet	Sungjae An Tackeun Kim Chang Wan Oh Jae Seung Bang Si Un Lee Jaehyuk Heo
author_sort	Sungjae An
title	Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease
title_short	Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease
title_full	Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease
title_fullStr	Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease
title_full_unstemmed	Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease
title_sort	vascular tortuosity of the internal carotid artery is related to the rnf213 c.14429g > a variant in moyamoya disease
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/4bfd68b3582e4d3688c558af7363321b
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_version_	1718387750401474560

Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease

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