RNF213与心血管疾病:组织病理学、遗传学和潜在分子机制综述

IF 2.5 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS
Toshinaru Kawakami, Masamichi Ito, Takayuki Isagawa, Takahiro Kuchimaru, Norihiko Takeda
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引用次数: 0

摘要

2011年,无名指蛋白213 (RNF213)基因被确定为烟雾病(MMD)的易感基因,此后被认为是更广泛的血管疾病的关键因素。RNF213中的p.R4810K突变在日本烟雾病患者中尤为常见,尽管一小部分健康人也携带该突变,这表明环境因素和遗传易感性可能影响疾病的发病。RNF213是一种大型E3泛素连接酶,在血管稳态、免疫反应和内质网应激反应中起重要作用。它的突变破坏了正常的血管生成,导致肺动脉高压和冠状动脉疾病等疾病的异常血管重塑。本文综述了RNF213及其p.R4810K突变在烟雾病和其他血管疾病发病机制中的多方面作用,这些疾病统称为RNF213相关血管疾病。虽然研究已经开始阐明突变对血管生成的影响及其相关途径,但RNF213及其突变在血管完整性中的作用仍不清楚。这一综合综述强调了遗传和环境因素在rnf213相关血管疾病中的复杂相互作用,并呼吁进一步研究阐明这些机制并制定有针对性的治疗干预措施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
RNF213 and cardiovascular disease: A review of histopathological, genetic perspectives, and potential molecular mechanisms.

The ring finger protein 213 (RNF213) gene, identified in 2011 as a susceptibility gene for moyamoya disease (MMD), has since been recognized as a key factor in a broader spectrum of vascular disorders. The p.R4810K mutation in RNF213 is particularly common among Japanese MMD patients, although a smaller percentage of healthy individuals also carry the mutation, indicating that environmental factors, alongside genetic predisposition, likely influence disease onset. RNF213, a large E3 ubiquitin ligase, plays essential roles in vascular homeostasis, immune response, and endoplasmic reticulum stress reaction. Its mutation disrupts normal angiogenesis, contributing to abnormal vascular remodeling in conditions such as pulmonary hypertension and coronary artery disease. This review examines the multifaceted role of RNF213 and its p.R4810K mutation in the pathogenesis of MMD and other vascular conditions, collectively referred to as RNF213-associated vascular diseases. While research has begun to clarify the mutation's effects on angiogenesis and the involved pathways, the roles of RNF213 and its mutation in vascular integrity remain unclear. This comprehensive overview underscores the complex interaction between genetic and environmental factors in RNF213-related vascular diseases and calls for further research to elucidate these mechanisms and develop targeted therapeutic interventions.

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来源期刊
Journal of cardiology
Journal of cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
4.90
自引率
8.00%
发文量
202
审稿时长
29 days
期刊介绍: The official journal of the Japanese College of Cardiology is an international, English language, peer-reviewed journal publishing the latest findings in cardiovascular medicine. Journal of Cardiology (JC) aims to publish the highest-quality material covering original basic and clinical research on all aspects of cardiovascular disease. Topics covered include ischemic heart disease, cardiomyopathy, valvular heart disease, vascular disease, hypertension, arrhythmia, congenital heart disease, pharmacological and non-pharmacological treatment, new diagnostic techniques, and cardiovascular imaging. JC also publishes a selection of review articles, clinical trials, short communications, and important messages and letters to the editor.
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