Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Narcolepsy01:07

Narcolepsy

721
Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
721
Sleep-Wake Cycles01:24

Sleep-Wake Cycles

3.2K
Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and  rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
3.2K
Polygenic Traits01:18

Polygenic Traits

70.2K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
70.2K
Polygenic Traits01:18

Polygenic Traits

11.3K
11.3K
Substance Use Disorders Affecting Sleep01:24

Substance Use Disorders Affecting Sleep

522
Substance use disorders involve a pattern of using drugs more extensively than intended and continuing use despite harmful consequences. This includes legal substances like alcohol and nicotine, as well as illegal drugs. These disorders often involve both physical and psychological dependence, reflecting compulsive use of substances that significantly alter thoughts, feelings, and behaviors, contributing to a major public health issue.
Understanding the concepts of physical dependence,...
522
Management of Insomnia01:19

Management of Insomnia

764
The sleep cycle, an integral part of human health, consists of several stages with distinct characteristics and functions. It begins with a transition from wakefulness to sleep, known as the light sleep phase, followed by the restorative deep sleep phase, essential for physical recovery and growth. The cycle concludes with the Rapid Eye Movement (REM) phase, characterized by high brain activity and vivid dreaming. Insomnia, a prevalent sleep disorder, involves difficulty falling asleep, staying...
764

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Diametrically opposed sex-specific effects of autistic traits on risk-taking in poker.

PCN reports : psychiatry and clinical neurosciences·2026
Same author

Reduced Soluble Ubiquilin2 in Amyotrophic Lateral Sclerosis Carrying Ubiquilin2 (P494L) Mutation: Clinicopathological and Biochemical Evidence From an Autopsy Case.

Neuropathology and applied neurobiology·2026
Same author

A reappraisal of APOE genetic effects on Alzheimer's disease risk in the Japanese population: a meta-analysis.

Molecular neurodegeneration·2026
Same author

APOE*4 risk-modifying genes and drug targets in Alzheimer's disease through cell-type-specific genomic analyses.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

The First Autopsy-Proven Case of CSF1R-Related Leukoencephalopathy Harboring the p.Cys774Arg Mutation.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same author

Mass spectrometry-based proteomic profiling of human tauopathy brains suggests mitochondria-associated alterations.

Frontiers in molecular neuroscience·2026

Related Experiment Video

Updated: Mar 19, 2026

Measuring Neural Mechanisms Underlying Sleep-Dependent Memory Consolidation During Naps in Early Childhood
08:20

Measuring Neural Mechanisms Underlying Sleep-Dependent Memory Consolidation During Naps in Early Childhood

Published on: October 2, 2019

12.6K

Evaluation of polygenic risks for narcolepsy and essential hypersomnia.

Maria Yamasaki1, Taku Miyagawa1,2, Hiromi Toyoda1

  • 1Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Journal of Human Genetics
|June 17, 2016
PubMed
Summary

This study reveals that common genetic variations, or single-nucleotide polymorphisms (SNPs), significantly contribute to narcolepsy and essential hypersomnia (EHS) risk. These findings highlight shared genetic factors between narcolepsy and EHS, particularly in individuals carrying the HLA-DQB1*06:02 allele.

More Related Videos

Polygraphic Recording Procedure for Measuring Sleep in Mice
08:45

Polygraphic Recording Procedure for Measuring Sleep in Mice

Published on: January 25, 2016

25.6K
Human Circadian Phenotyping and Diurnal Performance Testing in the Real World
10:16

Human Circadian Phenotyping and Diurnal Performance Testing in the Real World

Published on: April 7, 2020

9.2K

Related Experiment Videos

Last Updated: Mar 19, 2026

Measuring Neural Mechanisms Underlying Sleep-Dependent Memory Consolidation During Naps in Early Childhood
08:20

Measuring Neural Mechanisms Underlying Sleep-Dependent Memory Consolidation During Naps in Early Childhood

Published on: October 2, 2019

12.6K
Polygraphic Recording Procedure for Measuring Sleep in Mice
08:45

Polygraphic Recording Procedure for Measuring Sleep in Mice

Published on: January 25, 2016

25.6K
Human Circadian Phenotyping and Diurnal Performance Testing in the Real World
10:16

Human Circadian Phenotyping and Diurnal Performance Testing in the Real World

Published on: April 7, 2020

9.2K

Area of Science:

  • Genetics
  • Neurology
  • Sleep Medicine

Background:

  • Narcolepsy and Essential Hypersomnia (EHS) are distinct sleep disorders with overlapping symptoms and potential shared genetic underpinnings.
  • The human leukocyte antigen (HLA) class II allele, HLA-DQB1*06:02, is a known major genetic risk factor for narcolepsy, present in nearly all narcolepsy patients and a subset of EHS patients and healthy individuals.

Purpose of the Study:

  • To investigate the contribution of common single-nucleotide polymorphisms (SNPs) to narcolepsy onset.
  • To assess the shared genetic background between narcolepsy and EHS through polygenic analysis.

Main Methods:

  • A polygenic analysis was conducted on cohorts including narcolepsy patients, EHS patients (with and without HLA-DQB1*06:02), and healthy individuals.
  • Control groups with panic disorder and autism were included to validate the specificity of the findings.

Main Results:

  • Polygenic risk scores explained a significant portion of narcolepsy heritability (58.1% with HLA-DQB1*06:02, 1.3% without).
  • Small-effect SNPs collectively contribute to narcolepsy development, with specific reported SNPs (CPT1B, TRA@, P2RY11) explaining a small fraction of onset.
  • EHS patients carrying HLA-DQB1*06:02 demonstrated a higher shared genetic risk with narcolepsy patients compared to EHS patients without the allele, even after excluding HLA-DQB1*06:02 effects.

Conclusions:

  • Common SNPs play a role in narcolepsy and EHS pathogenesis, indicating shared genetic factors.
  • The genetic architecture of narcolepsy involves both the major HLA-DQB1*06:02 allele and numerous small-effect SNPs.
  • The study provides robust evidence for a shared genetic basis between narcolepsy and EHS, particularly influenced by the HLA-DQB1*06:02 allele.