کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10833083 | 1065784 | 2014 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs
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کلمات کلیدی
IPSCacid-α-glucosidaseGSDIIGAALSDALP - آلکالن فسفاتازenzyme replacement therapy - آنزیم جایگزین درمانTem - این استLysosomal storage disease - بیماری ذخیره سازی لیزوزومیPompe disease - بیماری پومپUltrastructure - زیرساختiPS cell - سلول IPSInduced pluripotent stem cell - سلول های بنیادی پلوروپتوژن منجر شده استTransmission electron microscope - میکروسکوپ الکترونی انتقالPAS - نهGlycogen storage disease type II - نوع دوم ذخیره سازی گلیکوژنERT - هستند
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Pompe disease (PD), which is also called glycogen storage disease type II (GSDII), is one of the lysosomal storage diseases (LSDs) caused by a deficiency in acid-α-glucosidase (GAA) in the lysosome and is characterized by the accumulation of glycogen in various cells. PD has been treated by enzyme replacement therapy (ERT). We generated induced pluripotent stem cells (iPSCs) from the cells of patients with infantile-type and late-onset-type PD using a retrovirus vector to deliver transgenes encoding four reprogramming factors, namely, OCT4, SOX2, c-MYC, and KLF4. We confirmed that the two types of PD-iPSCs exhibited an undifferentiated state, alkaline phosphatase staining, and the presence of SSEA-4, TRA-1-60, and TRA-1-81. The PD-iPSCs exhibited strong positive staining with Periodic acid-Schiff (PAS). Moreover, ultrastructural features of these iPSCs exhibited massive glycogen granules in the cytoplasm, particularly in the infantile-type but to a lesser degree in the late-onset type. Glycogen granules of the infantile-type iPSCs treated with rhGAA were markedly decreased in a dose-dependent manner. Human induced pluripotent stem cell provides an opportunity to build up glycogen storage of Pompe disease in vitro. It represents a promising resource to study disease mechanisms, screen new drug compounds and develop new therapies for Pompe disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 112, Issue 1, May 2014, Pages 44-48
Journal: Molecular Genetics and Metabolism - Volume 112, Issue 1, May 2014, Pages 44-48
نویسندگان
Takashi Higuchi, Shiho Kawagoe, Makoto Otsu, Yohta Shimada, Hiroshi Kobayashi, Reimi Hirayama, Koji Eto, Hiroyuki Ida, Toya Ohashi, Hiromitsu Nakauchi, Yoshikatsu Eto,