The genetics of narcolepsy

Human narcolepsy is a genetically complex disorder. Family studies indicate a 20-40 times increased risk of narcolepsy in first-degree relatives and twin studies suggest that nongenetic factors also play a role. The tight association between narcolepsy-cataplexy and the HLA allele DQB1*0602 suggests...

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Veröffentlicht in:Annual review of genomics and human genetics Jg. 4; S. 459
Hauptverfasser: Chabas, Dorothee, Taheri, Shahrad, Renier, Corinne, Mignot, Emmanuel
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States 01.01.2003
Schlagworte:
Animals
Autoimmunity
Carrier Proteins - genetics
Disease Models, Animal
Dogs
Genetic Predisposition to Disease
HLA-DQ Antigens - genetics
HLA-DQ beta-Chains
Humans
Intracellular Signaling Peptides and Proteins
Mice
Narcolepsy - genetics
Neuropeptides - genetics
Orexins
ISSN:1527-8204
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Zusammenfassung:Human narcolepsy is a genetically complex disorder. Family studies indicate a 20-40 times increased risk of narcolepsy in first-degree relatives and twin studies suggest that nongenetic factors also play a role. The tight association between narcolepsy-cataplexy and the HLA allele DQB1*0602 suggests that narcolepsy has an autoimmune etiology. In recent years, extensive genetic studies in animals, using positional cloning in dogs and gene knockouts in mice, have identified abnormalities in hypothalamic hypocretin (orexin) neurotransmission as key to narcolepsy pathophysiology. Though most patients with narcolepsy-cataplexy are hypocretin deficient, mutations or polymorphisms in hypocretin-related genes are extremely rare. It is anticipated that susceptibility genes that are independent of HLA and impinge on the hypocretin neurotransmitter system are isolated in human narcolepsy.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1527-8204
DOI:10.1146/annurev.genom.4.070802.110432