Global analysis of congenital bone and joint diseases using a chondrogenic differentiation system from iPS cells

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591507
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kyoto University
• Principal Investigator: UMEDA KATSUTUSGU 京都大学, 医学(系)研究科(研究院), 助教 (80397538)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: iPS細胞 / 骨・関節疾患 / 軟骨分化

Outline of Final Research Achievements

We addressed whether the pathogenesis of CINCA syndrome, a congenital bone and joint disease characterized by epiphyseal overgrowth, could be recapitulated by using neural crest-derived chondroprogenitor differentiation from using patient-derived iPS cells. 3D chondrogenic assays showed mutant iPS cells produced significantly huge chondrogenous pellets than wild type iPS cells. Furthermore, in vivo chongrogenic assays by subcutaneous xenotranplation into immunodeficient mice showed that huge chondrogenenous tissues, consisting of immature chondroprogenitors, were obtained, which recapitulates the pathological condition of the syndrome.

Free Research Field

小児科学