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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Vydané v:Annual review of genomics and human genetics Ročník 4; s. 459
Hlavní autori: Chabas, Dorothee, Taheri, Shahrad, Renier, Corinne, Mignot, Emmanuel
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: United States 01.01.2003
Predmet:
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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Popis
Shrnutí: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.
Bibliografia:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
ObjectType-Review-3
content type line 23
ISSN:1527-8204
DOI:10.1146/annurev.genom.4.070802.110432