The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene
The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene
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DOI：
10.1016/s0092-8674(00)81965-0
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发表时间：
1999-08-06
期刊：
影响因子：
64.5
通讯作者：
Mignot, E
中科院分区：
文献类型：
--
作者：
Lin, L;Faraco, J;Mignot, E
嗜睡症是一种影响人类和动物的致残性睡眠障碍。它的特征是白天嗜睡、昏厥和从清醒到快速眼动（REM）睡眠的显著过渡。在这项研究中，我们使用定位克隆，以确定一个常染色体隐性突变负责这种睡眠障碍在一个完善的犬模型。我们已经确定，犬嗜睡症是由下丘脑泌素（食欲素）受体2基因（Hcrtr2）的破坏引起的。这一结果确定hypocretins作为主要的睡眠调节神经递质，并为发作性睡病患者开辟了新的潜在治疗方法。
Narcolepsy is a disabling sleep disorder affecting humans and animals. It is characterized by daytime sleepiness, cataplexy, and striking transitions from wakefulness into rapid eye movement (REM) sleep. In this study, we used positional cloning to identify an autosomal recessive mutation responsible for this sleep disorder in a well-established canine model. We have determined that canine narcolepsy is caused by disruption of the hypocretin (orexin) receptor 2 gene (Hcrtr2). This result identifies hypocretins as major sleep-modulating neurotransmitters and opens novel potential therapeutic approaches for narcoleptic patients.