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

庞贝氏症是一种溶酶体贮积症。它是由于溶酶体酸性α-葡糖苷酶（GAA）缺乏导致糖原在溶酶体中积累而引起的。为了揭示庞贝氏症的发病机制，我从患者皮肤成纤维细胞中产生了庞贝氏症患者特异性iPS细胞（iPSC）。与野生型iPSC相比，Pompe-iPSC使用PAS分析为阳性染色。透射电镜观察显示Pompe-iPSCs胞浆内有糖原颗粒。用GAA处理的Pompe-iPSCs显示，这些颗粒的减少取决于细胞中GAA的浓度。

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.