Abstract
In recent years, the ring finger protein 213 gene (RNF213) has gradually attracted attention, mainly because it has been found that RNF213 c.14429 G>A is associated with moyamoya disease (MMD) in East Asian populations. Recent studies have revealed that RFN213 is not only associated with MMD but is also connected with intracranial major artery stenosis/occlusion (ICASO) and intracranial aneurysm (IA). However, only the relationship between RNF213 c.14429 G>A and ICASO has been confirmed, and whether RNF213 has other mutations related to ICASO remains unclear. RNF213 and IA are currently only confirmed to be correlated in French-Canadian Population and no correlation has been found in the Japanese population. This review summarizes the advances in the associations between RNF213 and different cerebrovascular diseases and highlights that variant diversity of RNF213 may predispose distinct populations to dissimilar cerebrovascular diseases.
Highlights
The ring finger protein 213 gene (RNF213) gene is located on chromosome 17 and encodes a ring finger protein of 5207 amino acids
Zhou et al found that two RNF213 point mutations (p.R2438C and p.A2826T) were associated with intracranial aneurysms in French-Canadian Population, both of which are located in the AAA+ATPase domain, and ATPase activity was increased in IA patients
The correlation between RNF213 p.R4810K and moyamoya disease (MMD) is reported in Asian populations but not identified in Europeans and non-Asian descent Americans
Summary
The RNF213 gene is located on chromosome 17 and encodes a ring finger protein of 5207 amino acids. This gene has two important functional domains: a RING finger domain and an AAA+ATPase domain [1]. RNF213 has attracted attention mainly because studies have found that RNF213 is a susceptibility gene for moyamoya disease (MMD) in East Asian populations, especially in Japanese populations [2]. Zhou et al found that different mutations of RNF213 are correlated with intracranial aneurysm (IA) in French-Canadian Population [4]. Mice with Rnf213 gene knockout and mice with mutations corresponding to the human RNF213 c.14429. RNF213 p.R4810K and RNF213 c.14429 G>A are used consistently in this review
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