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

Infection01:20

Infection

11.6K
When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
11.6K
Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

524
The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
524
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

676
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
676
Pneumonia II: Pathophysiology01:29

Pneumonia II: Pathophysiology

2.5K
The pathophysiology of pneumonia involves the following steps:
2.5K
Stages of Infection01:26

Stages of Infection

64.7K
Stages of infection describe what happens to a susceptible host once a pathogen invades the human body. The stages of infection are incubation, prodromal, illness, stage of decline, and convalescence. The incubation stage is the period from exposure to a pathogen until symptoms start. The infected person is unaware of impending illness as the pathogens grow and multiply within the body. The duration may vary depending on the type of infection. The incubation period of measles averages ten to...
64.7K
Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

2.6K
The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
2.6K

You might also read

Related Articles

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

Sort by
Same author

Diagnostic delay in early-onset Alzheimer's disease in Japan: a retrospective study.

BMC neurology·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

CCN1/Cyr61 associates with β-amyloid levels in human cerebrospinal fluids.

iScience·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

Related Experiment Video

Updated: Jan 8, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K

Basic Science and Pathogenesis.

Akinori Miyashita1, Ai Obinata1, Norikazu Hara1

  • 1Brain Research Institute, Niigata University, Niigata, Niigata, Japan.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 23, 2025
PubMed
Summary

Researchers identified rare missense variants (RMVs) in the APOE gene in the Japanese population. Two specific APOE RMVs demonstrated a protective effect against Alzheimer's disease (AD), suggesting a potential new avenue for AD research.

More Related Videos

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

Related Experiment Videos

Last Updated: Jan 8, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K
A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • Apolipoprotein E (APOE) is a key genetic risk factor for Alzheimer's disease (AD).
  • Previous research identified rare missense variants (RMVs) in APOE linked to AD in European and US populations.
  • The role and prevalence of APOE RMVs in East Asian populations, specifically Japanese individuals, regarding AD and lipid metabolism remain largely uncharacterized.

Purpose of the Study:

  • To identify and characterize APOE RMVs within the Japanese population.
  • To investigate the association of these APOE RMVs with Alzheimer's disease.
  • To evaluate the relationship between APOE RMVs and lipid metabolism, including low-density lipoprotein cholesterol levels.

Main Methods:

  • Analysis of two Japanese cohorts (Niigata and Tohoku) for APOE RMVs using Sanger and whole-exome sequencing.
  • A large case-control study involving 6,471 AD patients and 20,270 controls from the Japanese population.
  • Comparison of APOE RMV frequencies with global populations and examination of genotype associations with AD and lipoproteins.

Main Results:

  • Fourteen APOE RMVs were identified in the Japanese population, with 10 being East Asian specific.
  • Two novel RMVs (rs140808909 and rs190853081) showed a significant protective association against AD (P<0.05).
  • No significant impact of APOE RMVs on cholesterol levels was observed in this cohort.

Conclusions:

  • The study successfully identified APOE RMVs in the Japanese population, expanding knowledge of their genetic diversity.
  • Two identified RMVs suggest a potential protective role against Alzheimer's disease in this population.
  • Further large-scale studies are warranted to confirm these findings and elucidate the functional impact of APOE RMVs on AD pathogenesis and lipid profiles.