Recent advance in association between ring finger protein 213 gene p.R4810K and moyamoya disease
10.3760/cma.j.issn.1671-8925.2019.10.018
- VernacularTitle:环指蛋白213基因p.R4810K与烟雾病的相关性研究进展
- Author:
Xiaoxing NI
1
;
Wen'an XU
;
Mingwu XIA
Author Information
1. 安徽医科大学附属合肥医院
- Keywords:
Moyamoya disease;
Ring finger protein 213 gene p.R4810K;
Genetics
- From:
Chinese Journal of Neuromedicine
2019;18(10):1054-1059
- CountryChina
- Language:Chinese
-
Abstract:
Moyamoya disease (MMD) is a chronic progressive steno-occlusive vasculopathy that involves terminal portions of the bilateral internal carotid arteries and/or the initial segment of the middle cerebral arteries and/or the initial segment of the anterior cerebral arteries. Ring finger protein 213 gene (RNF213) is considered as the major susceptibility gene of MMD.RNF213p.R4810K is mainly distributed in East Asians and is the founder variant of Asian patients with MMD.RNF213p.R4810K is associated with the incidence, prevalence, severity of illness and clinical manifestations of MMD. The biochemical mechanisms ofRNF213p.R4810K are still unclear and may affect angiogenesis of endothelial cells through both cell cycle-dependent and cell cycle-independent mechanisms. This paper reviews the research progress ofRNF213p.R4810K and the related mechanisms in MMD.
