Pathogenetic Stidies and Novel Enzyme Treatment using Fabry, Pompe and Tay-Sacks iPS cells

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461536
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Southen Tohoku Research Institute for Neuroscience
• Principal Investigator: Eto Yoshikatsu 一般財団法人脳神経疾患研究所, 先端医療研究センター, センター長 (50056909)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: ライソゾーム病 / IPS 細胞 / Tay-Sacks 病 / Niemann-Pick病 / Fabry 病 / MLD

Outline of Final Research Achievements

In order to elucidate the pathology of lysosomal disease, iPS cells of Fabry disease, Tay-Sacks disease, NPC　were established using Sendai virus vector, and try to generate in neuron cells. Using clonal cells and iPs derived cells, we conducted the research on disease mechanism and their treatment. 1) Elucidation of pathological metabolism in iPS cells of Tay-Sacks disease - differentiation from iPS cells into nerve cells to investigate the synthesis system of Ganglioside GM2 and GM3. 2) Analysis of autophagy and its treatment in Fabry disease and NPC clonal cells:. Increased Leucine with high expression level of Spin 1 leads to decreased autophagic expression in NPC patient-derived cell lines. These findings indicate the possibility that leucine might contribute to the treatment of NPC and Spin 1 expression contributes to treatment of NPC.

Free Research Field

小児科学