日本科學(xué)家發(fā)現(xiàn)一種可能與嗜睡病有關(guān)的基因變體,，有望據(jù)此找到治療這種疾病的方法。
日本研究人員通過分析國內(nèi)222名嗜睡病患者和389名正常人的基因組,，發(fā)現(xiàn)患者體內(nèi)一種基因變體出現(xiàn)頻率相當(dāng)高,。他們把研究結(jié)果發(fā)表在英國《自然遺傳學(xué)》雜志上。
這種基因位于疑與睡眠紊亂相關(guān)的CPT1B 基因和CHKB基因之間,。前者控制一種調(diào)節(jié)睡眠的酶,，后者與睡眠周期有關(guān)。
東京大學(xué)人類遺傳學(xué)系教授德永勝士表示：“45％的嗜睡病患者攜帶這種基因變體,，正常人這一比例為30％,。”
他說，找到這一變體為專家尋求嗜睡病治療方法開辟了方向,。
嗜睡病是一種睡眠紊亂癥,，特征是白天睡眠過多、視力減退,、肌無力等,。美國人和歐洲人發(fā)病率是兩千五百分之一,，日本人發(fā)病率至少是他們的4倍。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics (28 Sep 2008), doi: 10.1038/ng.231, Letters
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
Taku Miyagawa, Minae Kawashima, Nao Nishida, Jun Ohashi, Ryosuke Kimura, Akihiro Fujimoto, Mihoko Shimada, Shinichi Morishita, Takashi Shigeta, Ling Lin, Seung-Chul Hong, Juliette Faraco, Yoon-Kyung Shin, Jong-Hyun Jeong, Yuji Okazaki, Shoji Tsuji, Makoto Honda, Yutaka Honda, Emmanuel Mignot, Katsushi Tokunaga
Narcolepsy (hypocretin deficiency), a sleep disorder characterized by sleepiness, cataplexy and rapid eye movement (REM) sleep abnormalities, is tightly associated with HLA-DRB1*1501 (M17378) and HLA-DQB1*0602 (M20432). Susceptibility genes other than those in the HLA region are also likely involved. We conducted a genome-wide association study using 500K SNP microarrays in 222 Japanese individuals with narcolepsy and 389 Japanese controls, with replication of top hits in 159 Japanese individuals with narcolepsy and 190 Japanese controls, followed by the testing of 424 Koreans, 785 individuals of European descent and 184 African Americans. rs5770917, a SNP located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 10-7) and other ancestry groups (OR = 1.40, P = 0.02). Real-time quantitative PCR assays in white blood cells indicated decreased CPT1B and CHKB expression in subjects with the C allele, suggesting that a genetic variant regulating CPT1B or CHKB expression is associated with narcolepsy. Either of these genes is a plausible candidate, as CPT1B regulates -oxidation, a pathway involved in regulating theta frequency during REM sleep, and CHKB is an enzyme involved in the metabolism of choline, a precursor of the REM- and wake-regulating neurotransmitter acetylcholine.
