Generation of iPSCells from human fibroblast with Pompe Disease and Pathological Analysis of the iPS Cells

• Project/Area Number: 23791196
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Jikei University School of Medicine
• Principal Investigator: HIGUCHI Takashi 東京慈恵会医科大学, 医学部, ポストドクトラルフェロー (30595327)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2011: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
• Keywords: 遺伝病 / ポンペ病 / 人工多能性幹細胞(iPS細胞) / 人工多能性幹細胞 / 酸性αグルコシダーゼ / ライソゾーム病 / iPS細胞

Research Abstract

The Pompe disease is a one of the lysosomal storage disorders. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme. To reveal pathogenesis of Pompe disease, I generated Pompe disease patient-specific iPS cells (iPSCs) from the patient skin fibroblast. The Pompe-iPSCs were positive-staining using PAS analysis compared to wild-type iPSCs. Transmission Electron Microscope analysis indicated that the Pompe-iPSCs exhibited glycogen granule in the cytosol. Pompe-iPSCs treated with GAA, showed that those granules were decreased depended onGAA concentrations in the cell.

Research Products

• [Journal Article] Morphological Features of iPS cells generated from Fabry disease Skin Fibroblasts using Sendai virus vector (2013)
  • Author(s): Shiho Kawagoe, Takashi Higuchi,他8人
  • Journal Title: Molecular Genetics and Metabolism Volume: (印刷中)
  • URL: http://www.journals.elsevier.com/molecular-genetics-and-metabolism/
  • Peer Reviewed
• [Presentation] Generation of iPS Cells from human fibroblast with Pompe Disease and Pathological Analysis of the iPS Cells (2013)
  • Author(s): Takashi Higuchi,他10人
  • Organizer: The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of The Japanese Society for Inherited Metabolic Diseases(JSIMD)
  • Place of Presentation: 舞浜市・千葉県
• [Presentation] Pathological Features of Induced Pluripotent Stem Cells (iPSCs) Generated from Skin Fibroblasts of Various Lysosomal Storage Diseases (2013)
  • Author(s): Takashi Higuchi,他10人
  • Organizer: 12th International Congress of Inborn Errors of Metabolism(ICIEM2013)
  • Place of Presentation: バルセロナ・スペイン
• [Presentation] ゴーシェ病及びポンペ病患者皮膚細胞由来iPS様細胞の樹立 (2012)
  • Author(s): 樋口 孝、他9人
  • Organizer: 第54回日本先天代謝異常学会総会
  • Place of Presentation: 岐阜市・岐阜県
• [Presentation] センダイウイルスを用いたヒトファブリー病由来iPS様細胞の樹立 (2012)
  • Author(s): 河越 しほ、樋口 孝、他2人
  • Organizer: 第54回日本先天代謝異常学会総会
  • Place of Presentation: 岐阜市・岐阜県
• [Presentation] ゴーシェ病及びポンペ病患者皮膚細胞由来iPS様細胞の樹立 (2012)
  • Author(s): 樋口孝
  • Organizer: 日本先天代謝異常学会
  • Place of Presentation: 岐阜
• [Book] ライソゾーム病-最新の病態,診断,治療の進歩 (2011)
  • Author(s): 樋口 孝、他
  • Publisher: 診断と治療社
• [Book] ライソゾーム病 (2011)
  • Author(s): 樋口孝
  • Total Pages: 283
  • Publisher: 診断と治療社