2010 Fiscal Year Final Research Report
Searching for susceptibility genes in narcolepsy, and the therapeutic application
| Project/Area Number |
21790336
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
MIYAGAWA Taku The University of Tokyo, 大学院・医学系研究科, 助教 (20512263)
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| Project Period (FY) |
2009 – 2010
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| Keywords | ゲノム医科学 / ナルコレプシー |
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| 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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