2013 Fiscal Year Final Research Report
Identification of modifier genes of Alzheimer's disease amyloid pathology using a mouse-to-human translational approach
| Project/Area Number |
23591706
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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 |
Psychiatric science
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| Research Institution | Osaka University |
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Principal Investigator |
MORIHARA Takashi 大阪大学, 医学(系)研究科(研究院), 助教 (90403196)
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| Co-Investigator(Kenkyū-buntansha) |
TAKEDA Masatoshi 大阪大学, 医学部精神医学教室, 教授 (00179649)
TANAKA Toshihisa 大阪大学, 医学部精神医学教室, 准教授 (10294068)
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| Co-Investigator(Renkei-kenkyūsha) |
AKATHU Hiroyasu 福祉村病院, 長寿医学研究所, 副所長
SUZUKI Toshiharu 北海道大学, 大学院薬学研究科, 教授
COLE Greg UCLA, Dept Neurology, Professor
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| Project Period (FY) |
2011 – 2013
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| Keywords | アルツハイマー病 / 疾患関連遺伝子 / 多因子疾患 |
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| Research Abstract |
Alzheimer's disease (AD) is a common, complex neurological disease caused by numerous genetic and environmental factors making the identification of sporadic AD related genes difficult. To overcome these difficulties, we combined a mouse model of Abeta accumulation and transcriptomics, which simplifies the complexity, yet increases the statistical power for such a genetic screen, and identified Klc1 variant E as an Abeta accumulation modifier in vivo. Notably, these results translated to humans where the expression levels of KLC1 variant E in brain were significantly higher in AD than control subjects. To our knowledge, this is the first report linking splicing of Klc1 to disease, and strongly implicates transport defects as a major contributor to Abeta accumulation and AD pathology.
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Research Products
(11 results)
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[Journal Article] Functional genetic variation at the NRGN gene and schizophrenia : evidence from a gene-based case-control study and gene expression analysis2012
Author(s)
Ohi K, Hashimoto R, Yasuda Y, Fukumoto M, Yamamori H, Umeda-Yano S, Okada T, Kamino K, Morihara T, Iwase M, Kazui H, Numata S, Ikeda M, Ohnuma T, Iwata N, Ueno S, Ozaki N, Ohmori T, Arai H, Takeda M
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Journal Title
Am J Med Genet B Neuropsychiatr Genet
Volume: 159B(4)
Pages: 405-13
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