Analysis of the mechanism of bone elongation using disease-specific iPS cells

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K09985
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: The University of Tokyo
• Principal Investigator: Kitanaka Sachiko 東京大学, 医学部附属病院, 登録診療員 (30431638)
• Research Collaborator: Saito Taku
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: Kenny-Caffey症候群 / FAM111A / 低身長

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.

Free Research Field

小児科学

Academic Significance and Societal Importance of the Research Achievements

原因遺伝子として特定したにも関わらず、その機能や発症機序が不明であったFAM111Aが、軟骨分化増殖に影響することが初めて判明した。この研究をさらにすすめることにより、低身長の発症機序の解明が可能である。