2016 Fiscal Year Final Research Report
Medulloblastoma generation in nevoid basal cell carcinoma syndromee-induced pluripotent stem cells.
| Project/Area Number |
15K19041
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Human genetics
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| Research Institution | Kitasato University |
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Principal Investigator |
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| Research Collaborator |
IKEMOTO Yu
KATO Chise
ARAI Yuto
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Keywords | 母斑基底細胞癌症候群 / 髄芽腫 / iPS細胞 / CRISPR/Cas9システム |
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| Outline of Final Research Achievements |
In this study, we established iPSCs derived from patients with Nevoid basal cell carcinoma syndrome (NBCCS), and tried to generate disease models in order to perform drug screening for NBCCS and the syndrome-related tumors. NBCCS-iPSCs had characteristics of pluripotent stem cells. Growth and differentiation capabilities of iPSCs remained unaffected by mutations in the PTCH1 gene. Meanwhile, medulloblastoma was formed in all the teratomas generated from all NBCCS-iPSC clones established from 4 different patients. Sequencing analysis of the microdissected medulloblastoma specimen revealed a loss of heterozygosity of the PTCH1 gene. These results demonstrated that NBCCS-iPSCs can be a good model of NBCCS-derived medulloblastoma, and thereby used for drug screening to prevent or treat medulloblastomas. Further pathological and molecular analyses are expected to reveal the mechanisms for tumorigenesis of Hh-related tumors.
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| Free Research Field |
癌
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