Clarification of the relation between the pathology of neurometabolic diseases and peroxisomal function
| Project/Area Number |
24390261
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Gifu University |
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Principal Investigator |
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| 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)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000)
Fiscal Year 2014: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2013: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2012: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000)
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| 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 / 脂肪酸代謝異常 / 網羅的解析 / 脱髄 / モデル生物 / バイオインフォマティクス / 脱随 |
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| 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.
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Report
(4 results)
Research Products
(31 results)
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[Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013
Author(s)
Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
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Journal Title
Neurogenetics.
Volume: 14
Pages: 225-232
DOI
Related Report
Peer Reviewed
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[Journal Article] Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome.2013
Author(s)
Hama K, Nagai T, Nishizawa C, Ikeda K, Morita M, Satoh N, Nakanishi H, Imanaka T, Shimozawa N, Taguchi R, Inoue K, Yokoyama K.
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Journal Title
Lipids
Volume: 48
Pages: 1253-1267
DOI
Related Report
Peer Reviewed
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[Presentation] 副腎白質ジストロフィー2014
Author(s)
下澤伸行
Organizer
第56回日本小児神経学会 シンポジウム
Place of Presentation
浜松
Year and Date
2014-05-29 – 2014-05-31
Related Report
Invited
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