Functional Analysis of iPSC-derived Myocytes from a Patient with Carnitine Palmitoyltransferase II Deficiency

• Project/Area Number: 23791200
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Fukuoka University
• Principal Investigator: YASUNO Tetsuhiko 福岡大学, 医学部, 助手 (80551994)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: CPTII欠損症 / iPS細胞 / 先天代謝異常症 / 横紋筋融解症 / ベザフィブラート

Research Abstract

We induced differentiation of CPT II-deficient hiPSCs into mature myocytes in a highly efficient and reproducible manner and recapitulated some aspects of the disease phenotypes of CPT II deficiency in the myocyte disease models. This approach addresses the challenges of modeling the abnormality of FAO in CPT II deficiency using iPSC technology and has the potential to revolutionize translational research in this field.

Research Products

• [Journal Article] Functional Analysis of iPSC-derived Myocytes from a Patient with Carnitine Palmitoyltransferase II Deficiency (2014)
  • Author(s): Tetsuhiko Yasuno, Kenji Osafune, Hidetoshi Sakurai, Isao Asaka, Akihito Tanaka, Seiji Yamaguchi, Kenji Yamada, Hirofumi Hitomi, Sayaka Arai, Yuko Kurose, Yasuki Higaki, Mizuki Sudo, Souichi Ando, Hitoshi Nakashima, Takao Saito, Hidetoshi Kaneoka
  • Journal Title: Biochem. and Biophys. Res. Commun Volume: (in press) Issue: 2 Pages: 175-181
  • DOI: 10.1016/j.bbrc.2014.04.084
  • Peer Reviewed / Open Access
• [Journal Article] Distinct cytokine mRNA expression pattern in immunoglobulin G4-related kidney disease associated with renal cell carcinoma (2014)
  • Author(s): Renya Watanabe, Tetsuhiko Yasuno, Satoshi Hisano, Yoshie Sasatomi, Nakashima
  • Journal Title: Clin Kidney J Volume: (in press) Issue: 3 Pages: 269-274
  • DOI: 10.1093/ckj/sfu024
  • Peer Reviewed
• [Journal Article] Monitoring and robust induction of nephrogenic intermediate mesoder m from human pluripotent stem cells (2013)
  • Author(s): Shin-Ichi Mae, Akemi Shono, Fumihiko Shiota, Tetsuhiko Yasuno, Masatoshi Kajiwara, Nanaka Gotoda-Nishimura, Sayaka Arai, Aiko Sato-Otubo, Taro Toyoda, Kazutoshi Takahashi, Naoki Nakayama, Chad A. Cowan, Takashi Aoi, Seishi Ogawa, Andrew P. McMahon, Shinya Yamanaka, Kenji Osafune
  • Journal Title: Nature Communications Volume: 4:1367 Issue: 1 Pages: 1367-1367
  • DOI: 10.1038/ncomms2378
  • Peer Reviewed
• [Journal Article] Monitoring and robust induction of nephrogenic intermediate mesoderm from human pluripotent stem cells (2013)
  • Author(s): Shin-ichi Mae, Akemi Shono, Fumihiko Shiota, Tetsuhiko Yasuno, Shinya Yamanaka, Kenji Osafune
  • Journal Title: nature communications Volume: 4:1367 Pages: 1-1
  • Peer Reviewed
• [Presentation] 患者由来iPS細胞から病的筋細胞への分化誘導 (2014)
  • Author(s): 安野哲彦
  • Organizer: 第4回日本腎臓リハビリテーション学会
  • Place of Presentation: 福岡
  • Year and Date: 2014-03-30
• [Presentation] Carnitine palmitoyltransferaseII欠損症の病態解明 (2012)
  • Author(s): 安野哲彦
  • Organizer: 第2回日本腎臓リハビリテーション学会
  • Place of Presentation: 仙台
  • Year and Date: 2012-01-21