Searching for susceptibility genes in narcolepsy, and the therapeutic application

2014 Fiscal Year Final Research Report

• Project/Area Number: 23689022
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Human genetics
• Research Institution: The University of Tokyo
• Principal Investigator: MIYAGAWA TAKU 東京大学, 医学(系)研究科(研究院), 助教 (20512263)
• Project Period (FY): 2011-04-01 – 2015-03-31
• Keywords: ゲノム / 遺伝学 / ゲノムワイド関連解析 / ナルコレプシー / 睡眠障害 / カルニチン / HLA / CNV

Outline of Final Research Achievements

I performed association studies to identify novel genetic factors for narcolepsy. HLA-DQB1*03:02, HLA-DPB1*05:01 and low frequency CNVs in PARK2 gene region were found to be associated with narcolepsy. In addition, I found a significant association between essential hypersomnia and a SNP in CRAT gene region.
To assess the efficacy of oral l-carnitine for the treatment of narcolepsy, I performed a clinical trial administering L-carnitine (510 mg/day) to patients with narcolepsy. L-carnitine treatment significantly improved the total time for dozing off during the daytime compared with that of placebo-treated periods. This study suggests that oral L-carnitine can be effective in reducing excessive daytime sleepiness in narcolepsy patients.

Free Research Field

人類遺伝学