Searching for susceptibility genes in narcolepsy, and the therapeutic application
Project/Area Number |
21790336
|
Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Single-year Grants |
Research Field |
Human genetics
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Research Institution | The University of Tokyo |
Principal Investigator |
MIYAGAWA Taku The University of Tokyo, 大学院・医学系研究科, 助教 (20512263)
|
Project Period (FY) |
2009 – 2010
|
Project Status |
Completed (Fiscal Year 2010)
|
Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
|
Keywords | ゲノム医科学 / ナルコレプシー / ゲノムワイド関連解析 / Replication Study / 睡眠 / アシルカルニチン / カルニチン / 脂肪酸β酸化 / CPT1B / 真性過眠症候群 / CHKB / TCRA / HLA / SNP |
Research Abstract |
Using a new approach that consists of a combination of genome-wide association studies (GWAS) and an extensive database search for narcolepsy candidate genes, we picked up 202 candidate genes and then performed a replication study in narcolepsy. As a result, six genes (NFATC2、SCP2、CACNA1C、TCRA/DAD1、POLE and FAM3D) were found to be significantly associated with narcolepsy. In addition, we measured carnitine fractions in narcoleptics and healthy individuals to test the hypothesis that fatty acid beta-oxidation is altered in narcolepsy. The acylcarnitine levels were abnormally low in 21% of the narcoleptics while those of all the controls were within the normal range.
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Report
(3 results)
Research Products
(33 results)