KOREA RESEARCH INSTITUTE OF BIOSCIENCE AND BIOTECHNOLOGY
发明人:
CHO, YEE SOOK,SON, MI YOUNG,KWAK, JAE EUN,SEOL, BINNA,JEON, HYE JIN
申请号：
EP14880388
公开号：
EP3012321A4
申请日:
2014.11.20
申请国别(地区):
EP
年份:
2016
代理人:
摘要：
The present invention relates to a method for preparing a GM1 gangliosidosis human cell model based on induced pluripotent stem cells (iPSCs) and iPSCs originated neural progenitor cells, and a use of the GM1 model above for the development of a GM1 gangliosidosis treating agent. The iPSCs originated from GM1 patient fibroblasts can be differentiated into neural progenitor cells (NPCs) and neurosphere cells that can emulate the characteristics shown in GM1 patient, so that the said cells can be efficiently used for the investigation of intracellular GM1 symptoms such as the GM1 gangliosidosis and lysosome accumulation and the gene expression pattern change. So, the GM1 cell model of the present invention can be efficiently used for the study of GM1 development mechanism and the study for the development of a therapeutic agent for the disease. The present inventors also established the inflammasome inhibitor rhIL1RA or Z-YVAD-FMK by using the above GM1 cell model and further confirmed that it can be efficiently used as a relieving/treating agent of GM1 gangliosidosis. In addition, the molecular symptoms of GM1 patient could be reproduced in the transformed cells having the E186A mutation which is newly identified as the GM1 gangliosidosis causing protein mutation. Therefore, the mutant cells containing the induced E186A mutation can be efficiently used as the GM1 gangliosidosis cell model.
