A prepro-orexin gene polymorphism is associated with narcolepsy
Related Experiment Video
Updated: Oct 9, 2026

Manipulation of Gene Function in Mexican Cavefish
Published on: April 22, 2019
M Gencik1, N Dahmen, S Wieczorek
1Department of Molecular Human Genetics, Ruhr-University, Bochum, Germany. martin.gencik@ruhr-uni-bochum.de
Abstract:
The orexin (hypocretin) neurotransmitter system was recently shown to be directly involved in the pathogenesis of narcolepsy in two animal models. Furthermore, decreased levels of orexin A in the CSF were shown in narcoleptic patients. To define any genetic contribution of orexin to the etiology of narcolepsy, the authors screened the entire prepro-orexin gene for mutations or polymorphisms in 133 patients suffering from narcolepsy. They report an association of a rare polymorphism in the prepro-orexin gene with narcolepsy in a cohort of 178 patients.
Related Concept Videos
Sleep-Wake Cycles
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
Narcolepsy
Circadian Rhythms and Gene Regulation
Pleiotropy
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Epistasis Analysis
