title: A prepro-orexin gene polymorphism is associated with narcolepsy.
abstract: The orexin (hypocretin) neurotransmitter system was recently shown to be directly involved in the pathogenesis of narcolepsy in two animal models. Furthermore, decreased levels of orexin A in the CSF were shown in narcoleptic patients. To define any genetic contribution of orexin to the etiology of narcolepsy, the authors screened the entire prepro-orexin gene for mutations or polymorphisms in 133 patients suffering from narcolepsy. They report an association of a rare polymorphism in the prepro-orexin gene with narcolepsy in a cohort of 178 patients.
authors.affiliation: Department of Molecular Human Genetics, Ruhr-University, Bochum, Germany. martin.gencik@ruhr-uni-bochum.de
authors.forename: M
authors.initials: M
authors.lastname: Gencik
authors.forename: N
authors.initials: N
authors.lastname: Dahmen
authors.forename: S
authors.initials: S
authors.lastname: Wieczorek
authors.forename: M
authors.initials: M
authors.lastname: Kasten
authors.forename: J
authors.initials: J
authors.lastname: Bierbrauer
authors.forename: I
authors.initials: I
authors.lastname: Anghelescu
authors.forename: A
authors.initials: A
authors.lastname: Szegedi
authors.forename: A M
authors.initials: AM
authors.lastname: Menezes Saecker
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D017931:DNA Primers; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009290:Narcolepsy / Q000235:genetics*; D009479:Neuropeptides; D000068797:Orexins; D020641:Polymorphism, Single Nucleotide; D011498:Protein Precursors / Q000235:genetics*
chemical_list: D017931:DNA Primers; C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins; D011498:Protein Precursors