Tafti Mehdi, Dauvilliers Yves, Overeem Sebastiaan
Center for Integrative Genomics (CIG) and Center for Investigation and Research in Sleep (CIRS), University of Lausanne and Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Curr Opin Genet Dev. 2007 Jun;17(3):222-7. doi: 10.1016/j.gde.2007.04.007. Epub 2007 Apr 27.
Sleep disorders are very prevalent and represent an emerging worldwide epidemic. However, research into the molecular genetics of sleep disorders remains surprisingly one of the least active fields. Nevertheless, rapid progress is being made in several prototypical disorders, leading recently to the identification of the molecular pathways underlying narcolepsy and familial advanced sleep-phase syndrome. Since the first reports of spontaneous and induced loss-of-function mutations leading to hypocretin deficiency in human and animal models of narcolepsy, the role of this novel neurotransmission pathway in sleep and several other behaviors has gained extensive interest. Also, very recent studies using an animal model of familial advanced sleep-phase syndrome shed new light on the regulation of circadian rhythms.
睡眠障碍非常普遍，呈现出一种在全球范围内不断涌现的流行病态势。然而，对睡眠障碍分子遗传学的研究仍然令人惊讶地是最不活跃的领域之一。尽管如此，在几种典型疾病方面正在取得快速进展，最近已导致确定发作性睡病和家族性早睡综合征的分子途径。自从在发作性睡病的人类和动物模型中首次报道导致下丘脑泌素缺乏的自发和诱导功能丧失突变以来，这条新的神经传递途径在睡眠及其他几种行为中的作用已引起广泛关注。此外，最近使用家族性早睡综合征动物模型的研究为昼夜节律的调节提供了新的线索。
