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Recent findings made by the center are highlighted, together with a brief explanation. For pdf files, please go to the publications section on this site.
Mignot E, Lin L, Rogers W, Honda Y, Qiu X, Lin X, Okun M, Hohjoh H, Miki T, Hsu S, Leffell M, Grumet F, Fernandez-Vina M, Honda M, Risch N. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 2001 Mar;68(3):686-99. American Journal of Human Genetics, March 1st, 2001. The first systematic HLA study on narcolepsy across three different ethnic groups.
Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X, Qiu X, de Jong PJ, Nishino S, Mignot E. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell. 1999 Aug 6;98(3):365-76.
Canine narcolepsy is caused by mutations in the hypocretin (orexin) receptor 2 gene. First publication implicating the hypocretin system in narcolepsy, published in Cell August 6th, 1999.
Nishino S, Ripley B, Overeem S, Lammers GJ, Mignot E.Hypocretin (orexin) deficiency in human narcolepsy. Lancet. 2000 Jan 1;355(9197):39-40
Human narcolepsy is associated with undetectable hypocretin-1 levels in the cerebrospinal fluid. First publication implicating the hypocretin system in human narcolepsy, published in The Lancet, January 1st 2000.
Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med. 2000 Sep;6(9):991-7.
Most cases of human narcolepsy cases are not caused by hypocretin gene mutations. Only one hypocretin mutation was found, in a case with unsually early narcolepsy onset at 6 months of age. This finding demonstrates that hypocretin mutations can cause narcolepsy in humans as they do in animals.
This manuscript also extends on the human CSF study by showing that human narcolepsy brain tissues have no hypocretin-1 and 2 peptides. It also reports that human narcolepsy cases have no preprohypocretin transcripts in their hypothalami, an area containing the hypocretin cells. First publication indicating that human narcolepsy is caused by a destruction of hypocretin-containing cells, published in Nature Medicine, September 1st 2000.
