| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Outline of Final Research Achievements |
Kenny-Caffey syndrome type 2 (KCS2) is characterized by short stature, cortical thickening and medullary stenosis of tubular bones, and hypoparathyroidism. However, the function of the responsible gene FAM111A is largely unknown. In this study, we analyzed the mechanism of FAM111A mutation, using cultured chondrocyte, model animals, and disease-specific induced pluripotent stem cells. Induction of the mutant FAM111A into the chondrocytes disturbed chondrocyte proliferation and differentiation. Severel lines of disease-specific iPS cells were established. The mutant protein induced bone abnormality using model animals.
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