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相关概念视频

Infection01:20

Infection

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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.
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Urinary Tract Infection II: Pathophysiology01:25

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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...
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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.
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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...
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基础科学和病原发生学

Alexandra N Regelson1,2, Derek B Archer1,2, Alaina Durant1,3

  • 1Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.

Alzheimer's & dementia : the journal of the Alzheimer's Association
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PubMed
概括
此摘要是机器生成的。

研究人员确定了9个与认知衰退相关的基因,包括SIGIRR,PLA2G4A和HPN的新鲜罕见变异,这些变异与衰老和阿尔茨海默病 (AD) 相关的执行功能衰退有关.

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科学领域:

  • 遗传学 是一个遗传学.
  • 神经科学是一个神经科学.
  • 衰老研究研究 衰老研究

背景情况:

  • 阿尔茨海默病 (AD) 呈现出显著的遗传性,但大部分仍未得到解释,可能是由于疾病异质性.
  • 敏感的纵向认知测量可以作为内分类型来发现认知衰退的遗传驱动因素.

研究的目的:

  • 通过罕见变异分析识别衰老和阿尔茨海默氏症 (AD) 认知衰退的新型遗传驱动因素.
  • 在大型遗传研究中利用敏感的纵向认知测量作为内分类型.

主要方法:

  • 利用了来自8个认知衰老队伍的8481名参与者的全基因组测序数据.
  • 使用SKAT-O测试对协调记忆,执行功能和语言领域进行了罕见变异分析.
  • 包括小等位基因频率<0.01和高/中等影响的变异,对共变量进行调整,并使用FDR进行多次比较.

主要成果:

  • 确定了9个与认知领域相关的基因:APOE和PSEN1具有基线记忆,PEDS1-UBE2V1具有基线语言.
  • 发现了6个与执行功能下降相关的基因 (HPN,HPN-AS1,GAB1,CXCL3,SIGIRR,PLA2G4A).
  • 在SIGIRR,PLA2G4A和HPN的高影响变体和执行功能下降之间发现了显著的关联.

结论:

  • 突出了与认知功能和衰老和AD的衰退相关的新奇罕见变体.
  • GAB1被确定为阿尔茨海默病的潜在治疗标,在阿尔茨海默病患者和小鼠模型中观察到影响.
  • PLA2G4A在阿尔茨海默病和健康衰老中显示出改变的表达模式,这表明它在疾病进展中发挥了作用.