2014 Fiscal Year Final Research Report
Clarification of the relation between the pathology of neurometabolic diseases and peroxisomal function
| Project/Area Number |
24390261
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Partial Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Gifu University |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
TAKASHIMA Shigeo 岐阜大学, 生命科学総合研究支援センター, 助教 (50537610)
|
|---|
| Project Period (FY) |
2012-04-01 – 2015-03-31
|
| Keywords | ペルオキシソーム / 脂質代謝異常 / 発生異常 / iPS細胞 / モデルフィッシュ / ゲノム編集 |
|---|
| Outline of Final Research Achievements |
We have established new analysis system of peroxisomal metabolites, such as VLCFAs, phytanic acid, pristanic acid, and ether lipid derivatives, 1-glycerol-sn-3-phosphates, using combined GC/MS and UPLC/MS/MS, and applied this system to the diagnosis for multiple peroxisomal diseases in Japan. For 3 years of this grant, we identified 98 Japanese patients with peroxisomal diseases, including 8 patients with peroxisome biogenesis disorders (PBD), and 49 male patients and 41 female carriers with adrenoleukodystrophy (ALD). We also identified several increased saturated and unsaturated fatty acids in fibroblasts from PBD patients, using our newly developed system.
We induced iPSCs from PBD fibroblasts and further differentiated into neural stem cells and neurons. We are examining the content of above metabolites in iPSCs and differentiated neurons to find out what is specifically affected in the patient neural lineage.
|
| Free Research Field |
先天代謝異常
|
