Explication of organ specific pathogenesis in patients with cardiac Fabry disease using induced pluripotent stem cells

• Project/Area Number: 22790716
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Circulatory organs internal medicine
• Research Institution: Kagoshima University
• Principal Investigator: YOSHIMITSU Makoto 鹿児島大学, 医歯学総合研究科, 特任助教 (70404530)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000); Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: iPS細胞 / 心Fabry病 / Fabry病 / 人工多能性幹細胞 / 心筋分化誘導

Research Abstract

The purpose of this study is to explicate organ specific pathogenesis in patients with cardiac Fabry disease using induced pluripotent stem cells. Upon approval of our local ethical committee, cardiac Fabry patient derived fibroblasts were established. Despite the success of establishment of iPS cells from healthy donor, we are not able to establish iPS cells from cardiac Fabry patient derived fibroblasts using lentiviral or retroviral reprogramming gene transduction. Further study is definitely required to reveal the role of defective enzyme alpha-galactosidase A in the process of reprogramming into iPS cells

Research Products

• [Journal Article] Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice (2012)
  • Author(s): Pacienza N, Yoshimitsu M, Mizue N, Au BCY, Wang JCM, Fan X, Takenaka T, Medin JA
  • Journal Title: Molecular Therapy
  • Peer Reviewed
• [Journal Article] Sequencing and characterization of the porcine alpha-galactosidase A gene : towards the generation of a porcine model for Fabry disease (2011)
  • Author(s): Yoshimitsu M, Higuchi K, Fan X, Takao S, Medin JA, Tei C, Takenaka T.
  • Journal Title: Mol Biol Rep Volume: 38 Pages: 3145-3152
  • Peer Reviewed
• [Journal Article] Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease : Pitfalls of mutation analyses in patients with low α-galactosidase A activity (2011)
  • Author(s): Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T.
  • Journal Title: Journal of Cardiology Volume: 57 Pages: 345-353
  • Peer Reviewed
• [Journal Article] Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of fabry mice (2010)
  • Author(s): Higuchi K, Yoshimitsu M, Fan X, Guo X, Rasaiah VI, Yen J, Tei C, Takenaka T, Medin JA.
  • Journal Title: Molecular Medicine Volume: 16 Pages: 216-221
  • Peer Reviewed