Deng Xinpeng, Zhang Shaosen, Zhao Runsheng, Liu Wei, Huang Weihong, Chen Xuanlin, Gao Xiang, Huang Yi, Zhang Dong
Department of Neurosurgery, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Dahua Road, Dongcheng District, Beijing, 100730, China.
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Fluids Barriers CNS. 2025 Apr 17;22(1):39. doi: 10.1186/s12987-025-00649-6.
Moyamoya Disease (MMD) represents a chronic and progressive cerebrovascular disorder characterized by the gradual occlusion of the terminal portions of the bilateral internal carotid arteries and their major branches, accompanied by the formation of abnormal vascular networks at the base of the skull. In adolescents, particularly in pediatric populations, MMD is a significant cause of stroke, posing a severe challenge to human health and imposing a heavy burden on healthcare systems. Ring Finger Protein 213 (RNF213), as the primary susceptibility gene for MMD, plays a crucial regulatory role in the initiation, progression, and prognosis of the disease. Despite extensive research on the role of RNF213 in the pathogenesis of MMD, the underlying molecular mechanisms remain incompletely understood and represent a pressing scientific challenge requiring further exploration. This review aims to synthesize the latest research findings and systematically elucidate the multifaceted roles of RNF213 in MMD, including genetic susceptibility, immune-inflammatory responses, blood-brain barrier(BBB) disruption, and angiogenesis. By integrating these findings, this study seeks to provide new insights and theoretical support for a comprehensive and in-depth understanding of the pathophysiological processes of MMD. This research not only contributes to further unraveling the complex pathogenesis of MMD but also lays a solid theoretical foundation for the development of targeted preventive and therapeutic strategies.
烟雾病（MMD）是一种慢性进行性脑血管疾病，其特征是双侧颈内动脉末端及其主要分支逐渐闭塞，并伴有颅底异常血管网的形成。在青少年中，尤其是儿童群体，MMD是中风的一个重要原因，对人类健康构成严峻挑战，并给医疗系统带来沉重负担。环指蛋白213（RNF213）作为MMD的主要易感基因，在该疾病的发生、发展和预后中发挥着关键的调节作用。尽管对RNF213在MMD发病机制中的作用进行了广泛研究，但其潜在的分子机制仍未完全阐明，是一个亟待进一步探索的重大科学挑战。本综述旨在综合最新研究结果，系统阐述RNF213在MMD中的多方面作用，包括遗传易感性、免疫炎症反应、血脑屏障（BBB）破坏和血管生成。通过整合这些发现，本研究旨在为全面深入理解MMD的病理生理过程提供新的见解和理论支持。这项研究不仅有助于进一步揭示MMD的复杂发病机制，也为制定有针对性的预防和治疗策略奠定了坚实的理论基础。
