Establish model animal for AMD and Analysis of pathogenic mechanism of AMD

• Project/Area Number: 22791704
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Ophthalmology
• Research Institution: 独立行政法人国立病院機構東京医療センター(臨床研究センター) (2011); 独立行政法人国立病院機構(東京医療センター臨床研究センター) (2010)
• Principal Investigator: AKAHORI Masakazu 独立行政法人国立病院機構東京医療センター(臨床研究センター), 分子細胞生物学研究部, 流動研究員 (30343544)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000); Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 動物 / 細胞・組織 / 遺伝子

Research Abstract

Age-related macular degeneration(AMD) is a common cause of blindness in the elderly. Genetic association in the 10q26(ARMS2/HTRA1) region has been established in many ethnic groups for dry-type AMD, typical wet-type AMD. Here, we describe the phenotypic characteristics of transgenic mice overexpressing HtrA1 or ARMS2.As a result, a vascularization was decreased in ARMS2mut transgenic mice. We show that a gene change of HtrA1 or ARMS2 have an effect of a vascularization.

Research Products

• [Journal Article] Stargardt disease with preserved central vision : identification of a putative novel mutation in ATP-binding cassette transporter gene (2011)
  • Author(s): Fujinami K, Akahori M
  • Journal Title: Acta Ophthalmologica Volume: 89(3) Pages: 297-8
  • Peer Reviewed
• [Journal Article] Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice (2010)
  • Author(s): Chi ZL, Akahori M
  • Journal Title: Human Molecular Genetics Volume: 19(13) Pages: 2606-15
  • Peer Reviewed
• [Journal Article] Dominant mutations in RP1L1 are responsible for occult macular dystrophy (2010)
  • Author(s): Akahori M, Tsunoda K
  • Journal Title: American Journal of Human Genetics Volume: 87(3) Pages: 424-9
  • Peer Reviewed
• [Presentation] 加齢黄斑変性医療に必要なゲノム学を理解しよう (2011)
  • Author(s): 赤堀正和
  • Organizer: 第65回日本臨床眼科学会
  • Place of Presentation: 東京
• [Presentation] オカルト黄斑ジストロフィー(Occult Macular Dystrophy)の原因遺伝子解明 (2011)
  • Author(s): 赤堀正和
  • Organizer: 第115回日本眼科学会総会
  • Place of Presentation: 東京
• [Presentation] Dominant Mutations In RP1L1 Are Responsible For Occult Macular Dystrophy (2011)
  • Author(s): kahori M
  • Organizer: 2011 Annual Meeting, Association of Research in Vision and Ophthalmology
  • Place of Presentation: Lauderdale, USA
• [Presentation] 加齢黄斑変性症およびポリープ状脈絡膜血管症における全ゲノム関連解析 (2010)
  • Author(s): 赤堀正和 その他、
  • Organizer: 感覚器シンポジウム
  • Place of Presentation: 東京
• [Remarks]
  • URL: http://www.kankakuki.go.jp/lab_e.html
• [Remarks]
  • URL: http://www.kankakuki.go.jp/lab_e.html
• [Remarks]
  • URL: http://www.kankakuki.go.jp/lab_e.html