Establishment of a minimally invasive diagnostic method using induced pluripotent stem cells

Research Project

Project/Area Number	16K20098
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Anesthesiology
Research Institution	Hiroshima University
Principal Investigator	Kondo Takashi 広島大学, 病院(医), 助教 (20711774)
Project Period (FY)	2016-04-01 – 2019-03-31
Project Status	Completed (Fiscal Year 2018)
Budget Amount *help	¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000) Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000) Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000) Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Keywords	悪性高熱症 / 低侵襲的診断法 / 人工多能性幹細胞 / 医学 / 麻酔科学
Outline of Final Research Achievements	It was not possible to establish a functional test with muscle tissue differentiated from iPS cells created from blood or skin of patients with malignant hyperthermia. However, direct conversion from fibroblasts to myoblasts as an alternative method has become possible to create myotubes through the study, and the possibility of establishing a new functional test has been shown. In addition, it is shown by a functional analysis using human embryonic kidney cells that gene mutations newly discovered from gene information analysis of patients performed in parallel cause functional abnormality of type 1 ryanodine receptor which is one of the causes of onset of malignant hyperthermia.
Academic Significance and Societal Importance of the Research Achievements	悪性高熱症の診断には機能検査として筋生検が重要であるが、特に小児患者においては筋生検が侵襲的検査であることが問題となるため、本研究により悪性高熱症の低侵襲的診断法を確立できる可能性が示されたことで今後の診断がより簡便に行えることが期待される。また、遺伝子情報解析およびHEK細胞による機能解析により、悪性高熱症の原因となるリアノジン受容体の新たな遺伝子変異を同定することができた。