2009 Fiscal Year Final Research Report
Elucidation of molecular mechanisms of neurological diseases based on genome analysis
| Project/Area Number |
17019006
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| Research Category |
Grant-in-Aid for Scientific Research on Priority Areas
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| Allocation Type | Single-year Grants |
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| Review Section |
Biological Sciences
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| Research Institution | The University of Tokyo |
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Principal Investigator |
TSUJI Shoji The University of Tokyo, 医学部附属病院, 教授 (70150612)
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| Co-Investigator(Kenkyū-buntansha) |
ONODERA Osamu 新潟大学, 大学院・医学系研究科, 准教授 (20303167)
MURAYAMA Shigeo 東京都高齢者研究福祉振興財団, 東京都老人総合研究所臨床科学研究グループ, 参事研究員 (50183653)
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| Co-Investigator(Renkei-kenkyūsha) |
GOTO Jun 東京大学, 医学部附属病院, 講師 (10211252)
TAKAHASHI Yuji 東京大学, 医学部附属病院, 助教 (00372392)
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| Project Period (FY) |
2005 – 2009
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| Keywords | ゲノム / 脳神経疾患 / 遺伝子 / 遺伝学 / 脳・神経 |
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| Research Abstract |
This study has focused on elucidation of molecular mechanisms of neurological diseases based on genome analysis, and, eventually, to develop disease-modifying therapy for neurological diseases. This study focused on the broad range of neurological diseases ranging from single gene diseases to polygenic diseases. To facilitate the linkage study for familial diseases, a high throughput linkage analysis system (SNP HiTLink) employing SNP microarrays has been developed and applied for many diseases. Regarding single gene diseases, we have discovered the causative gene for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). For sporadic diseases, we have identified a strong disease suseceptibility gene for Parkinson disease. The result emphasizes the paradigm shift from common disease-common variants hypothesis to common disease-multiple rare variants hypothesis.
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Research Products
(4 results)
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[Journal Article] Familial Ischemic Cerebral Small-Vessel Disease, Alopecia, and Spondylosis Caused by Mutations in the HTRA1 Gene2009
Author(s)
Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O.
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Journal Title
New Engl J Med 360
Pages: 1729-1739
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