アカガワ　ヒロユキ   AKAGAWA Hiroyuki   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	総説
言語種別	日本語
査読の有無	査読なし
招待の有無	招待あり
表題	[Association of Rare RNF213 Variants and Moyamoya Disease].
掲載誌名	正式名：No shinkei geka. Neurological surgery 略　 称：No Shinkei Geka ISSNコード：03012603/03012603
掲載区分	国内
巻・号・頁	53(3),499-507頁
著者・共著者	Hiroyuki Akagawa
担当区分	筆頭著者
発行年月	2025/05
概要	Rare RNF213 variants other than p.R4810K(rs112735431) have been identified in Asian and European patients with moyamoya disease. Several studies have consistently demonstrated that putative functional variants are significantly more prevalent in patients than in the general population, with the aid of bioinformatics tools, such as Combined Annotation-Dependent Depletion. Among these rare susceptibility variants, p.R4062Q(rs1555676035) has been repeatedly reported in severe pediatric cases with moyamoya disease. Three-dimensional structural analysis suggested that this may cause a loss of polar contact with the D4003 residue, leading to instability of the E3 ligase module in RNF213. Rare susceptibility variants tend to accumulate in this E3 module in pediatric cases, which may influence the severity of the clinical manifestations. Further research, including in vitro and in vivo functional analyses of the variants, is required to develop precision medicine.
DOI	10.11477/mf.030126030530030499
PMID	40438012