| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia (TD) and achondroplasia (ACH). The lack of disease models using human cells has hampered the identification of a clinically effective treatment for these diseases. Here, we have generated induced pluripotent stem cells (iPSCs) from patients’ fibroblasts to establish iPSC disease models, followed by their differentiation toward chondrocytes. The chondrogenic differentiation of patients-iPSCs resulted in the formation of degraded cartilage. We found that statins could rescue the degraded cartilage in both chondrogenically differentiated patients-iPSCs. Treatment of ACH model mice with the statin led to a significant recovery of bone growth. These results suggest that statins could represent a medical treatment for infants and children with FGFR3 skeletal dysplasia.
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