| Budget Amount *help |
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2014: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2013: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2012: ¥7,800,000 (Direct Cost: ¥6,000,000、Indirect Cost: ¥1,800,000)
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| Outline of Final Research Achievements |
To investigate the pathomechanism of cartilage-forming tumors, we have focused on one patient with Maffucci syndrome, in whom multiple enchondromas and hemangiomas developed in almost entire body. Exome analyses of patient’s and her parents’ blood cells identified a mutation in a function-unknown gene (Gene Z). No mutations of Gene Z have been found in other cartilage-forming tumors so far. To investigate the significance of mutant Z protein, we have established iPS cells from the patient and induced chondrogenic differentiation. The results clearly indicated that cells with mutant Z have abnormal chondrogenic property, suggesting the involvement of mutant Z in cartilage-forming tumor. For further investigation, we are now trying to identify the binding protein.
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