Polymorphisms in hypocretin/orexin pathway genes and narcolepsy

• Published in: Neurology Vol. 57; no. 10; pp. 1896 - 1899
• Main Authors: OLAFSDOTTIR, B. R, RYE, D. B, SCAMMELL, T. E, MATHESON, J. K, STEFANSSON, K, GULCHER, J. R
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 27-11-2001
• Subjects: Adult; Biological and medical sciences; Carrier Proteins - genetics; Chromosome Mapping; Cross-Cultural Comparison; Exons; Female; Genetic Predisposition to Disease - genetics; Genetic Testing; Genotype; Humans; Iceland; Intracellular Signaling Peptides and Proteins; Introns; Male; Medical sciences; Middle Aged; Narcolepsy - diagnosis; Narcolepsy - genetics; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Neuropeptides - genetics; Orexin Receptors; Orexins; Polymorphism, Genetic; Protein Precursors - genetics; Receptors, G-Protein-Coupled; Receptors, Neuropeptide - genetics; United States; United States; Iceland; Human; Nervous system diseases; Gene; Risk factor; Sleep disorder; Nucleotide; Narcolepsy; Neurological disorder; Orexin; Polymorphism; Biological receptor
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/wnl.57.10.1896

The neuroexcitatory peptide hypocretin and its receptors are central to the pathophysiology of both human and animal models of the disease. In this study of American and Icelandic patients with narcolepsy, the authors found no significant association between narcolepsy and single-nucleotide polymorphisms in the genes for hypocretin or its two known receptors, hypocretin receptor-1 and hypocretin receptor-2.