A prepro-orexin gene polymorphism is associated with narcolepsy.
case_control · Level III
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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.
Medical subject headings
- Narcolepsy
- Neuropeptides
- Polymorphism, Single Nucleotide
- Protein Precursors