Fluids Barriers CNS. 2025 Apr 17;22(1):39. doi: 10.1186/s12987-025-00649-6.
ABSTRACT
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.
PMID:40247333 | DOI:10.1186/s12987-025-00649-6
