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 |
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| Hlavní autori: | , , , |
| Médium: | Journal Article |
| Jazyk: | English |
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United States
01.01.2003
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| ISSN: | 1527-8204 |
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| Abstract | 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. |
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| AbstractList | 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. 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.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. |
| Author | Chabas, Dorothee Taheri, Shahrad Mignot, Emmanuel Renier, Corinne |
| Author_xml | – sequence: 1 givenname: Dorothee surname: Chabas fullname: Chabas, Dorothee email: dorothee.chabas@psl.ap-hop-paris.fr organization: Federation de neurologie, Batiment Paul Castaigne, Hopital Salpetriere, 47-83 Boulevard de l'hopital, 75 013 Paris, France. dorothee.chabas@psl.ap-hop-paris.fr – sequence: 2 givenname: Shahrad surname: Taheri fullname: Taheri, Shahrad – sequence: 3 givenname: Corinne surname: Renier fullname: Renier, Corinne – sequence: 4 givenname: Emmanuel surname: Mignot fullname: Mignot, Emmanuel |
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| SubjectTerms | 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 |
| Title | The genetics of narcolepsy |
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