2014 Fiscal Year Final Research Report
Molecular mechanisms of myelodysplastic syndromes (MDS) using RUNX1-mutated iPS cells derived from familial MDS patients
| Project/Area Number |
24591398
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Hematology
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| Research Institution | Juntendo University (2013-2014)
Hiroshima University (2012) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
HARADA Yuka 順天堂大学, 医学部, 助教 (50379848)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 家族性MDS / iPS細胞 / RUNX1変異 / 骨髄異形成症候群 / CDC25C変異 |
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| Outline of Final Research Achievements |
We established RUNX1-mutated induced pluripotent stem cells (iPSs) derived from familial myelodysplastic syndromes (MDS) pedigrees. Familial MDS-iPSCs were clearly defective in the emergence of hematopoietic progenitors and differentiation of megakaryocytes. The familial MDS-iPSCs are thought to be a useful tool to investigate RUNX1 mutant-mediated molecular mechanisms of MDS, however, blast cells did not expand during long time culture. Therefore, additional gene abnormalities should be required to develop MDS. We investigated gene abnormalities in familial MDS patients with RUNX1-mutations using whole-exome sequencing. As a result, we identified recurrent CDC25C mutations to drive malignant transformation in familial MDS pedigrees.
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| Free Research Field |
血液内科学
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