Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

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

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Heritability of Alzheimer's disease-related plasma biomarkers in the Amish population.

Alzheimer's & dementia (Amsterdam, Netherlands)·2026
Same author

Uncovering lipid biomarkers linked to methylphenidate efficacy in treating apathy in Alzheimer's disease: insights from the ADMET 2 trial.

Alzheimer's research & therapy·2026
Same author

Genetic correlation analysis of Alzheimer's disease and stroke implicates PHLPP1 as a shared locus in individuals of African ancestry.

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

Shared Genetic Architecture Between Kidney Function and Alzheimer Disease Across Ancestries.

medRxiv : the preprint server for health sciences·2026
Same author

Disrupted lipid homeostasis as a pathogenic mechanism in ABCA7-associated Alzheimer's disease risk.

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

WDR12 and HIVEP3 are contributors to cognitive preservation in Amish SuperAgers.

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

Evidence for progressive neurodegeneration in iatrogenic cerebral amyloid angiopathy.

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

Human brain connectome profiles mediate the relationship between pathology burden and clinical phenotypes in Alzheimer's disease.

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

Kat5 cKO mouse replicates biological domain signatures associated with Alzheimer's disease.

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

Evaluation of CSF and plasma tau species as fluid surrogate candidates for tau PET in prodromal to moderate Alzheimer's disease.

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

Associations of self-reported obstructive sleep apnea with cognition and dementia risk in cognitively unimpaired middle-aged adults.

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

Inflammation profiles in Alzheimer's disease relate to cognition and neurodegeneration.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
関連記事をすべて見る

関連する実験動画

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

基礎科学と病態生理

Yining Liu1, Yeunjoo E Song2, Weihuan Wang1

  • 1Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
PubMed
まとめ
この要約は機械生成です。

研究者らは、アーミッシュにおける認知機能維持に関連する希少バリアント（RVs）を特定した。これらの発見は、アルツハイマー病（AD）の遺伝的基盤を説明し、保護因子を特定するのに役立つ可能性がある。

キーワード:
希少バリアント認知機能維持アーミッシュアルツハイマー病遺伝学

さらに関連する動画

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

関連する実験動画

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

科学分野:

  • 遺伝学;神経科学;集団研究

背景:

  • リスクの高い高齢者における認知機能維持は、十分に理解されていない。;希少バリアント（RVs）は、アルツハイマー病（AD）の欠損遺伝率に寄与する可能性がある。;アーミッシュのような創設者集団は、RVを濃縮し、遺伝的発見を容易にすることができる。

研究 の 目的:

  • 認知機能維持に関連するRVおよび関連遺伝子を特定する。;アーミッシュ集団からの全ゲノムシーケンス（WGS）データを活用する。;高齢化における認知機能レジリエンスの遺伝的基盤を調査する。

主な方法:

  • 868人のアーミッシュ（認知機能正常518人、認知機能障害350人）の全ゲノムシーケンス（WGS）。;認知機能正常（CU）対認知機能障害（CI）の状況を比較する遺伝子ベースのゲノムワイドRV関連テスト。;SKAT-Oを用いたコーディングRVおよびSTAARpipelineを用いた非コーディングRVの解析、共変量を考慮。

主要な成果:

  • B3GNT9およびRANBP10遺伝子におけるコーディングRVの示唆的な関連（p < 6.59x10-5）が示唆された。;タンパク質への影響が中程度のミスセンスRVが3つ同定された。;C1QL4のプロモーター領域における14のRVからも示唆的なシグナルが現れた（p < 7.00x10-6）。

結論:

  • 遺伝子ベースのゲノムワイドRV関連解析により、アーミッシュにおける認知機能維持との示唆的な関連が明らかになった。;RVsは、ADの完全な遺伝的構造を明らかにする可能性を示している。;これらのRVsに関するさらなる研究は、ADの新規治療標的を特定する可能性がある。