Investigation of a hereditary liver disease using induced pluripotent stem cells

• Project/Area Number: 15K08994
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Gastroenterology
• Research Institution: Kanazawa University
• Principal Investigator: Kobayashi Takeshi 金沢大学, 医学系, 協力研究員 (60740248)
• Co-Investigator(Kenkyū-buntansha): 中西 千明 金沢大学, 附属病院, 助教 (80623660)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: iPS細胞 / ウィルソン病 / 銅代謝異常 / 一卵性双生児 / 遺伝性疾患 / 肝臓病学 / 幹細胞 / 遺伝性肝疾患

Outline of Final Research Achievements

We performed the comprehensive analysis to elucidate the clinical difference between clinically divergent identical twins with abnormality of copper metabolism. We detected the mutations in ATP7B gene which is the causative gene of Wilson’s disease. We generated induced pluripotent stem cells (iPS cells) from peripheral blood cells of each identical twin. In vitro, although we confirmed the abnormality which is the phenotype of Wilson’s disease, we could not confirm the difference in the phenotype between identical twins.