2017 Fiscal Year Final Research Report
Alzheimer disease modifier gene: Identification by novel transcriptions and functional analysis
| Project/Area Number |
26461747
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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 |
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| Co-Investigator(Kenkyū-buntansha) |
武田 雅俊 藍野大学, 公私立大学の部局等, 学長 (00179649)
田中 稔久 大阪大学, 医学系研究科, 准教授 (10294068)
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| Co-Investigator(Renkei-kenkyūsha) |
AKATSU Hiroyasu 医療法人さわらび会福祉村病院, 長寿医療研究所, 研究員 (00399734)
SUZUKI Toshiharu 北海道大学, 薬学研究科(研究院), 教授 (80179233)
TSUNODA Tatsuhiko 独立行政法人理化学研究所, 統合生命医科学研究センター, グループディレクター (10273468)
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| Project Period (FY) |
2014-04-01 – 2018-03-31
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| Keywords | アルツハイマー病 / 疾患リスク遺伝子 / オミックス / アミロイドβ / マウス背景遺伝子 / トランスクリプトーム解析 |
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| Outline of Final Research Achievements |
Genetic studies of common complex human diseases, including Alzheimer's disease (AD), are extremely resource intensive, yet have struggled to identify genes that are causal in disease. Combined with the costs of such studies and the inability to identify the “missing heritability” particularly in AD, alternate strategies warrant consideration. We devised a unique strategy that combines distinct mouse strains that vary naturally in amyloid beta (Abeta) production with transcriptomics to identify Klc1 splice variant E as a modifier of Abeta accumulation, a causative factor of AD. In AD patients, the expression levels of KLC1 variant E in brain were significantly higher compared to unaffected individuals. The identification of KLC1 variant E suggests that dysfunction of intracellular trafficking is causative in AD.
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| Free Research Field |
老年精神医学
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