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

2014 Fiscal Year Final Research Report

• 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
• 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

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.

Free Research Field

血液学、ウイルス学