The pathophysiological and genetic analysis of Moyamoya disease using the patients-derived endothelial colony forming cells.

• Project/Area Number: 23591502
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kyushu University
• Principal Investigator: YOSHITO Ishizaki 九州大学, 大学病院, 助教 (20572944)
• Co-Investigator(Kenkyū-buntansha): TORISU Hiroyuki 九州大学, 大学病院, 助教 (10398076) ; 吉良 龍太郎 九州大学, 大学病院, その他 (70304805)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000); Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: もやもや病 / 細胞増殖 / マイクロアレイ

Research Abstract

We separated the endothelial colony forming cells from 6 patients with Moyamoya disease and control subjects. Then we analyzed the functions of RNF213 gene, that was reported as the first susseptibility gene of Moymoya disease. We found that RNF213 contributed to the pathogenesis of Moymoya disease in the process of inflammatory responses and the proliferation of endothelial cells and smooth muscle cells.

Research Products

• [Journal Article] もやもや病感受性遺伝子RNF213の検討 (2012)
  • Author(s): 石崎義人、 鳥巣 浩幸, 酒井 康成, 實藤 雅文, 山口 結, 原 寿郎
  • Journal Title: 脳と発達 Volume: 44
• [Journal Article] もやもや病感受性遺伝子RNF213の検討
  • Author(s): 石崎義人,鳥巣浩幸,酒井康成,實藤雅文,山口結,原寿郎
  • Journal Title: 日本小児神経学会雑誌 Volume: 44巻Suppl
• [Presentation] もやもや病感受性遺伝子RNF213の検討 (2012)
  • Author(s): 石崎義人,鳥巣浩幸,酒井康成,實藤雅文,山口結,原寿郎
  • Organizer: 日本小児神経学会総会
  • Place of Presentation: 札幌
• [Presentation] もやもや病感受性遺伝子RNF213の検討 (2012)
  • Author(s): 石崎義人
  • Organizer: 日本小児神経学会学術集会
  • Place of Presentation: 札幌
• [Remarks] 九州大学医学部小児科HP
  • URL: http://www.med.kyushu-u.ac.jp/pediatr/