Analysis for the association of autophagy with diamond blackfan anemia associated genes.

• Project/Area Number: 22790922
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Hematology
• Research Institution: National Institute of Infectious Diseases
• Principal Investigator: KURAMITSU Madoka 国立感染症研究所, 血液・安全性研究部, 研究員 (00566383)
• Project Period (FY): 2010 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2012: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 血液内科学 / anemia / 遺伝子変異 / リボソームタンパク質 / 血球分化 / オートファジー / Anemia / リボソーム / 赤芽球 / 赤芽球分化

Research Abstract

Responsible genes for Diamond Blackfan anemia are found in 50-70% of the patients, but the precise mechanism of the specific defect on erythroid differentiation is largely unknown. This study focused on the relationship between the responsible genes and cellular metabolism especially the activity of autophagy which is one of the balk degradation processes of cellular materials. The one of the responsible genes was found to be associated with the activation of autophagy in in vitro culture model system.

Research Products

• [Journal Article] Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia (2011)
  • Author(s): Kuramitsu M, Matsubara A, Morio T, Takagi M, Toki T, Terui K, RuNan W, Kanno H, Ohga S, Ohara A, Kitoh T, Sugita K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I
  • Journal Title: Blood Volume: (in press) Issue: 10 Pages: 2376-84
  • DOI: 10.1182/blood-2011-07-368662
  • Peer Reviewed
• [Presentation] Extensive gene deletions in Japanese patients with Diamond Blackfan anemia (2011)
  • Author(s): Madoka Kuramitsu
  • Organizer: 日本血液学会
  • Place of Presentation: 名古屋
  • Year and Date: 2011-10-14
• [Presentation] Extensive gene deletions in Japanese patients with Diamond Blackfan anemia (2011)
  • Author(s): Madoka Kuramitsu, Aiko Matsubara, Tomohiro Morio, Masatoshi Takagi, Tsutomu Toki, Kiminori Terui, RuNan Wang, Hitoshi Kanno, Shoichi Ohga, Akira Ohara, Atsuko Masumi, Haruka Momose, Takuo Mizukami, Kazuya Takizawa, Kazunari Yamaguchi, Seishi Ogawa, Etsuro Ito, Isao Hamaguchi
  • Organizer: 第73回日本血液学会
  • Place of Presentation: 名古屋
• [Presentation] New Determination Method for Extens ive Gene Deletions in Diamond .Blackfan Anemia (2010)
  • Author(s): Madoka Kuramitsu, Tomohiro Morio,, Masatoshi Takagi, Tsutomu Toki, Ki minori Terui, RuNan Wang, Atsuko Masumi, Takuo Mizukami, Haruka Momose, Kazuya Takizawa, Kazunari Yamaguchi, Etsuro Ito, and Isao Hamaguchi
  • Organizer: Poster III-1010、第52回アメリカ血液学会
  • Place of Presentation: オーランド、米国
• [Presentation] A novel method to analyze genomic c opy number of Diamond Blackfan anemia responsible genes. (2010)
  • Author(s): Madoka Kuramitsu, Tomohiro Morio, Masatoshi Takagi, Mic hio Ozeki, Atsuko Masumi, Takuo Miz ukami, Haruka Momose, Kazuya Takiz awa, Ito Etsuro, Kazunari Yamaguchi, Isao Hamaguchi
  • Organizer: 第72回日本血液学会
  • Place of Presentation: 横浜
• [Presentation] New Determination Method for Extensive Gene Deletions in Diamond-Blackfan Anemia (2010)
  • Author(s): 倉光球
  • Organizer: 第52回アメリカ血液学会
  • Place of Presentation: オーランド、フロリダ(米)
• [Presentation] A novel method to analyze genomic copy number of Diamond Blackfan anemia responsible genes (2010)
  • Author(s): 倉光球
  • Organizer: 第72回日本血液学会
  • Place of Presentation: 横浜
• [Presentation] Deficiency of Ribosomal protein associated with Diamond Blackfan anemia induces autophagy (2010)
  • Author(s): 倉光球
  • Organizer: 第72回日本血液学会
  • Place of Presentation: 横浜
• [Book] Diamond-Blackfan 貧血の分子異常 細胞 42(7)(通号 554) (2010)
  • Author(s): 浜口功、倉光球
  • Publisher: ニューサイエンス社
• [Book] 血液診療エキスパート貧血 (2010)
  • Author(s): 倉光球
  • Publisher: 中外医学者