2015 Fiscal Year Final Research Report
Development of a new experimental model for fibrodysplasia ossificans progressiva
| Project/Area Number |
15K15556
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Orthopaedic surgery
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| Research Institution | Saitama Medical University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2016-03-31
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| Keywords | 希少疾患 / 異所性骨化 / 病態モデル |
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| Outline of Final Research Achievements |
Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder characterized by progressive heterotopic ossification in soft tissues, such as skeletal muscle, tendon and ligament. ALK2 was identified as a molecule responsible for FOP, and an R206H mutation of ALK2 was found in patients with typical FOP. Recently, we established mouse ES cell lines, which express human ALK2(R206H) under the control of Tet-Off system. In the present study, we analyzed karyotypes of the ES cell lines and found that they had a translocation, duplication and an addition of a fragment of chromosomes. In the absence of Dox, they differentiated to chondrocytes in vitro in response to a stimulation by the TGF- β family ligand. These results suggest that the ES cell lines are novel model systems for FOP, at least in in vitro.
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| Free Research Field |
病態生理学
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