Modelling childhood neurotransmitter diseases using iPSCs
| Project/Area Number |
24591521
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Osaka City University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
SHINTAKU Haruo 大阪市立大学, 大学院医学研究科, 教授 (00206319)
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| Co-Investigator(Renkei-kenkyūsha) |
UMEZAWA Akihiro 独立行政法人国立成育医療センター, 細胞医療研究部, 再生医療センター長 (70213486)
TOYODA Masashi 東京都健康長寿医療センター研究所, 老年病態研究チーム, 副部長 (50392486)
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Keywords | iPS細胞 / 神経疾患 / 代謝性疾患 / 希少疾患 |
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| Outline of Final Research Achievements |
Childhood neurotransmitter diseases are genetic syndromes caused by dysfunctional synapsis. Based on our national survey for these diseases, clinical phenotype and laboratory profiles have been illustrated. Conventional laboratory testing for blood and cerebrospinal fluid, however, could not explain pathogenesis of neurological symptoms. Because each of the disease is extremely rare, there is no systematic approach to develop novel treatment. Here we aimed to establish model system by using patient derived iPSCs to elucidate molecular mechanisms for this devastating neurological phenotypes. As the results, we were able to established disease-specific iPSCs and successfully differentiated into neurons. Furthermore, we examined pathogenesis of the disease at cellular and molecular level.
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Report
(5 results)
Research Products
(20 results)
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[Journal Article] PET imaging analysis with 64Cu in disulfiram treatment for aberrant copper biodistribution in Menkes disease mouse model.2014
Author(s)
Nomura S, Nozaki S, Hamazaki T, Takeda T, Ninomiya E, Kudo S, Hayashinaka E, Wada Y, Hiroki T, Fujisawa C, Kodama H, Shintaku H, Watanabe Y.
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Journal Title
J Nucl Med
Volume: 55
Issue: 5
Pages: 845-851
DOI
Related Report
Peer Reviewed
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[Journal Article] Reprogramming adipose tissue-derived mesenchymal stem cells into pluripotent stem cells by a mutant adeno-associated viral vector2013
Author(s)
Chen M-J, Lu Y, Hamazaki T, Tsai H-Y, Erger K, Conlon T, Elshikha AS, Li H, Srivastava A, Yao C, Brantly M, Chiodo V, Hauswirth W, Terada N, Song S.
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Journal Title
Hum Gene Ther Methods
Volume: 25
Issue: 1
Pages: 72-82
DOI
Related Report
Peer Reviewed
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