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2017 Fiscal Year Final Research Report

Elucidation of the pathophysiology of cleidocranial dysplasia using disease-specific iPS cells

Research Project

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Project/Area Number 16K20428
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Functional basic dentistry
Research InstitutionTokyo Dental College

Principal Investigator

Saito Akiko  東京歯科大学, 歯学部, 助教 (90722835)

Project Period (FY) 2016-04-01 – 2018-03-31
Keywords疾患iPS細胞 / 骨芽細胞分化 / 鎖骨頭蓋骨異形成症
Outline of Final Research Achievements

We established cleidocranial dysplasia (CCD)-derived iPS cells (CCD-iPSCs) and also established Revertant-iPSCs in which RUNX2 mutation of CCD-iPSCs was corrected by CRISPR / Cas method. These iPSCs had pluripotency. In osteogenic induction analysis, expression of osteoblast differentiation markers such as ALP, OSX, OCN, and DLX5 was increased only in Revertant-iPSCs. In the rat calvarial bone defects transplantation experiment, the bone closure delay was observed in the CCD transplant group, and both bone volume and bone mineral content were lower than Revertant transplant group. From the above results, it was confirmed that the established CCD-iPSCs exhibited bone mineralization disorder accompanying osteoblast differentiation abnormality.

Free Research Field

生化学

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Published: 2019-03-29  

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