Neurological Surgery 脳神経外科52巻5号

2024年09月発行

特集 くも膜下出血のニューフロンティア—病態の再考と治療の進化 Ⅱ 破裂脳動脈瘤の病態—脳動脈瘤はなぜ破裂するのか？

頭蓋内動脈瘤と遺伝子の関連性

著者： 中冨浩文¹

所属機関： ¹杏林大学医学部脳神経外科

ページ範囲：P.924 - P.930

Point
・頭蓋内動脈瘤の一部は遺伝的変異によって引き起こされると考えられている．
・研究手法としてファミリーベース研究，ゲノムワイド関連研究，シークエンス研究がある．
・脳動脈瘤発生に重要な体細胞遺伝子変異を発見し，遺伝子変異に基づく分子標的薬開発の可能性を見出した．

参考文献

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