Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders.
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.
Tafti
Mehdi
M
Center for Integrative Genomics (CIG) and Center for Investigation and Research in Sleep (CIRS), University of Lausanne and Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. mehdi.tafti@unil.ch
Dauvilliers
Yves
Y
Overeem
Sebastiaan
S
D000818:Animals; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009290:Narcolepsy / Q000235:genetics* / Q000473:pathology*; D020178:Sleep Disorders, Circadian Rhythm / Q000235:genetics* / Q000473:pathology*