Journal
NATURE MEDICINE
Volume 6, Issue 9, Pages 991-997Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/79690
Keywords
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Funding
- NHLBI NIH HHS [HL59601] Funding Source: Medline
- NINDS NIH HHS [NS33797, NS 23724] Funding Source: Medline
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL059601] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [P50NS023724, R01NS033797, R37NS033797, P01NS023724] Funding Source: NIH RePORTER
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We explored the role of hypocretins in human narcolepsy through histopathology of six narcolepsy brains and mutation screening of Hcrt, Hcrtr1 and Hcrtr2 in 74 patients of various human leukocyte antigen and family history status. One Hcrt mutation, impairing peptide trafficking and processing, was found in a single case with early onset narcolepsy. In situ hybridization of the perifornical area and peptide radioimmunoassays indicated global loss of hypocretins, without gliosis or signs of inflammation in all human cases examined. Although hypocretin loci do not contribute significantly to genetic predisposition, most cases of human narcolepsy are associated with a deficient hypocretin system.
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