Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
PLoS One. 2013;8(1):e53707. doi: 10.1371/journal.pone.0053707. Epub 2013 Jan 17.
Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, and rapid eye movement (REM) sleep abnormalities. A genome-wide association study (GWAS) identified a novel narcolepsy-related single nucleotide polymorphism (SNP), which is located adjacent to the carnitine palmitoyltransferase 1B (CPT1B) gene encoding an enzyme involved in β-oxidation of long-chain fatty acids. The mRNA expression levels of CPT1B were associated with this SNP. In addition, we recently reported that acylcarnitine levels were abnormally low in narcolepsy patients. To assess the efficacy of oral L-carnitine for the treatment of narcolepsy, we performed a clinical trial administering L-carnitine (510 mg/day) to patients with the disease. The study design was a randomized, double-blind, cross-over and placebo-controlled trial. Thirty narcolepsy patients were enrolled in our study. Two patients were withdrawn and 28 patients were included in the statistical analysis (15 males and 13 females, all with HLA-DQB1*06:02). L-carnitine treatment significantly improved the total time for dozing off during the daytime, calculated from the sleep logs, compared with that of placebo-treated periods. L-carnitine efficiently increased serum acylcarnitine levels, and reduced serum triglycerides concentration. Differences in the Japanese version of the Epworth Sleepiness Scale (ESS) and the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) vitality and mental health subscales did not reach statistical significance between L-carnitine and placebo. This study suggests that oral L-carnitine can be effective in reducing excessive daytime sleepiness in narcolepsy patients.
University hospital Medical Information Network (UMIN) UMIN000003760.
发作性睡病是一种以日间过度嗜睡、猝倒和快速眼动（REM）睡眠异常为特征的睡眠障碍。全基因组关联研究（GWAS）确定了一种新的与发作性睡病相关的单核苷酸多态性（SNP），该 SNP 位于编码参与长链脂肪酸β-氧化的酶肉毒碱棕榈酰基转移酶 1B（CPT1B）基因的附近。CPT1B 的 mRNA 表达水平与该 SNP 相关。此外，我们最近报道发作性睡病患者的酰基肉碱水平异常降低。为了评估口服左旋肉碱治疗发作性睡病的疗效，我们对患有该病的患者进行了左旋肉碱（510mg/天）的临床试验。研究设计为随机、双盲、交叉和安慰剂对照试验。我们的研究纳入了 30 名发作性睡病患者。有 2 名患者退出，28 名患者纳入统计分析（15 名男性和 13 名女性，均携带 HLA-DQB1*06:02）。与安慰剂治疗期相比，左旋肉碱治疗显著改善了睡眠日志计算的白天打盹总时间。左旋肉碱有效增加了血清酰基肉碱水平，并降低了血清甘油三酯浓度。在日本版 Epworth 嗜睡量表（ESS）和医疗结局研究 36 项简明健康调查（SF-36）活力和心理健康子量表方面，左旋肉碱和安慰剂之间的差异没有达到统计学意义。这项研究表明，口服左旋肉碱可有效减少发作性睡病患者的日间过度嗜睡。
大学医院医疗信息网络（UMIN）UMIN000003760。
