Establish of gene repair methods and analysis of pathological conditions using iPS cells derived from patients with glycogen storage disease type Ia

2016 Fiscal Year Final Research Report

• Project/Area Number: 26870544
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Metabolomics; Pediatrics
• Research Institution: Kumamoto University
• Principal Investigator: Kido Jun 熊本大学, 医学部附属病院, 診療助手 (70721215)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 糖原病Ia型 / iPS細胞 / 肝臓

Outline of Final Research Achievements

Glycogen storege disease type Ia (GSD Ia) develop accumulation of glycogen in liver and hypoglycemia by impaired glyconeogenesis because of defect of Glucose-6-Phosphatase (G6Pase) in endoplasmic reticulum. In this study, we developed each iPS cell line with mutation of G6Pase gene from two patients with GSD Ia. Then, we induced iPS cells derived form normal subject and patients with GSD Ia into differentiated hepatocyte. The autophagy in hepatocyte from patients with GSD Ia more enhanced compared to that of hepatocyte from normal subject. Moreover, the autophagy in hepatocyte from patients with GSD Ia increasingly upregulated under low-glucose culture.

Free Research Field

先天代謝異常症