Analysis for erythroid defect in Diamond Blackfan anemia using patient-derived iPS cells

• Project/Area Number: 25860798
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Hematology
• Research Institution: National Institute of Infectious Diseases
• Principal Investigator: KURAMITSU Madoka 国立感染症研究所, その他部局等, 研究員 (00566383)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: リボソームタンパク質 / 貧血 / 遺伝子変異 / タンパク質分解 / 代謝 / 赤血球 / タンパク質代謝

Outline of Final Research Achievements

Diamond Blackfan anemia is rare congenital anemia that belongs to the inherited BM failure syndromes, generally presenting the first years of life. The onset mechanisms of the disease are widely unknown, even though progresses have been made by the analyses using various analytical methods such as gene manipulating technologies. Recently, the technology to prepare iPS cells from blood of patients has been established. These cells have the same genetic background with the patients. In this study, 4 strains of DBA-derived iPS cells were established from Japanese patients. Also, I found that the down-regulation of erythroid specific cell surface maker is closely related to the activation of intracellular metabolism including autophagy.

Research Products

• [Journal Article] Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. (2015)
  • Author(s): Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, et al.
  • Journal Title: British Journal of Haematology Volume: 168 Issue: 6 Pages: 854-864
  • DOI: 10.1111/bjh.13229
  • Peer Reviewed / Open Access
• [Journal Article] Identification of TL-Om1, an ATL Cell Line, as a Reference Material for Human T-Lymphotropic Virus 1 Quantitative PCR. (2015)
  • Author(s): Kuramitsu M, Okuma K, Yamagishi M, Yamochi T, Firouzi S, Momose H, Mizukami T, Takizawa K, Araki K, Sugamura K, Yamaguchi K, Watanabe T, Hamaguchi I.
  • Journal Title: Journal of Clinical Microbiology Volume: 53 Issue: 2 Pages: 587-596
  • DOI: 10.1128/jcm.02254-14
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] System vaccinology for the evaluation of influenza vaccine safety by multiplex gene detection of novel biomarkers in a preclinical study and batch release test. (2014)
  • Author(s): Mizukami T, Momose H, Kuramitsu M, Takizawa K, Araki K, Furuhata K, Ishii KJ, Hamaguchi I, Yamaguchi K.
  • Journal Title: PloS one Volume: 9 (7) Issue: 7 Pages: e101835-e101835
  • DOI: 10.1371/journal.pone.0101835
  • Peer Reviewed / Open Access
• [Journal Article] 8. リボソーム異常症と関連疾患 (2014)
  • Author(s): 倉光球、浜口功
  • Journal Title: 血液フロンティア 特集 赤血球造血の基礎と臨床 Volume: Vol. 24 No.4 Pages: 81-89
• [Journal Article] HUMAN T-CELL LEUKEMIA VIRUS TYPE I (HTLV-1) -INDETERMINATE WESTERN BLOT PATTERNS IN VOLUNTARY DONATED BLOOD SAMPLES IN JAPAN (2014)
  • Author(s): 相良 康子、後藤 信代、井上由紀子、守田麻衣子、倉光 球、大隈 和、浜口 功、入田 和男、清川 博之
  • Journal Title: Japanese Journal of Transfusion and Cell Therapy Volume: 60 Issue: 1 Pages: 18-24
  • DOI: 10.3925/jjtc.60.18
  • NAID: 130004542706
  • ISSN: 1881-3011, 1883-0625
  • Peer Reviewed
• [Journal Article] Degenerate polymerase chain reaction strategy with DNA microarray for detection of multiple and various subtypes of virus during blood screening (2013)
  • Author(s): Takizawa K, Nakashima T, Mizukami T, Kuramitsu M, Endoh D, Kawauchi S, Sasaki K, Momose H, Kiba Y, Mizutani T, Furuta RA, Yamaguchi K, Hamaguchi I
  • Journal Title: Transfusion. Volume: 17 Issue: 10pt2 Pages: 17-17
  • DOI: 10.1111/trf.12193
  • Peer Reviewed
• [Presentation] Development of a HTLV-1 DNA standard. (2014)
  • Author(s): Madoka Kuramitsu, Isao Hamaguchi
  • Organizer: SCIENTIFIC WORKING GROUP ON THE STANDARDISATION OF GENOME AMPLIFICATION TECHNIQUES
  • Place of Presentation: GRAZ (Austria)
  • Year and Date: 2014-05-28 – 2014-05-29
• [Book] 血液フロンティア (2014)
  • Author(s): 倉光 球、浜口 功
  • Total Pages: 9
  • Publisher: 医薬ジャーナル社
• [Patent(Industrial Property Rights)] HTLV-1プロウイルス検出のためのプライマーセット、及びそれを用いた検出方法 (2013)
  • Inventor(s): 倉光 球、浜口 功、大隈 和
  • Industrial Property Rights Holder: 倉光 球、浜口 功、大隈 和
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2013-196247
  • Filing Date: 2013-09-20