Investigation for the pathomechanism of cartilage-forming tumors by whole exome sequencing

2014 Fiscal Year Final Research Report

• Project/Area Number: 24390353
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Orthopaedic surgery
• Research Institution: Kyoto University
• Principal Investigator: TOGUCHIDA Junya 京都大学, 再生医科学研究所, 教授 (40273502)
• Co-Investigator(Kenkyū-buntansha): KATO Tomohisa 京都大学, iPS細胞研究所, 特定研究員 (50301247) ; IKEYA Makoto 京都大学, iPS細胞研究所, 准教授 (20442923)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 軟骨形成腫瘍 / Maffucci症候群 / iPS細胞

Outline of Final Research Achievements

To investigate the pathomechanism of cartilage-forming tumors, we have focused on one patient with Maffucci syndrome, in whom multiple enchondromas and hemangiomas developed in almost entire body. Exome analyses of patient’s and her parents’ blood cells identified a mutation in a function-unknown gene (Gene Z). No mutations of Gene Z have been found in other cartilage-forming tumors so far. To investigate the significance of mutant Z protein, we have established iPS cells from the patient and induced chondrogenic differentiation. The results clearly indicated that cells with mutant Z have abnormal chondrogenic property, suggesting the involvement of mutant Z in cartilage-forming tumor. For further investigation, we are now trying to identify the binding protein.

Free Research Field

整形外科学、分子腫瘍学、幹細胞生物学