Recent advance in association between ring finger protein 213 gene p.R4810K and moyamoya disease

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. RNF213 p.R4810K is mainly distributed in East Asians and is the founder variant of Asian patients with MMD. RNF213 p.R4810K is associated with the incidence, prevalence, severity of illness and clinical manifestations of MMD. The biochemical mechanisms of RNF213 p.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 of RNF213 p.R4810K and the related mechanisms in MMD. Key words: Moyamoya disease; Ring finger protein 213 gene p.R4810K; Genetics