2012 Fiscal Year Final Research Report
Generation of iPSCells from human fibroblast with Pompe Disease and Pathological Analysis of the iPS Cells
| Project/Area Number |
23791196
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Jikei University School of Medicine |
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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)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 遺伝病 / ポンペ病 / 人工多能性幹細胞(iPS細胞) |
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| 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.
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