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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.
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...
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Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

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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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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.
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基础科学和病原发生学

Henne Holstege1,2, Alex N Salazar2, Lydian Knoop2

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概括
此摘要是机器生成的。

在TMEM106B基因的遗传变异影响神经退行性疾病的风险. 特定的单元类型,如HAB和Hab,与阿尔茨海默氏症有明显的关联.

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科学领域:

  • 遗传学 遗传学 是一个
  • 神经科学是一个神经科学.
  • 分子生物学分子生物学

背景情况:

  • 全基因组关联研究 (GWAS) 已将TMEM106B变体与神经退行性疾病易感性相关联.
  • 在TMEM106B位点内的确切的因果遗传元素仍然不完全理解.

研究的目的:

  • 为了确定与阿尔茨海默氏病 (AD) 相关的TMEM106B位点内的特定单元类型.
  • 描述这些单元型的结构变化和分子特征.
  • 阐明TMEM106B单元类型对疾病风险和TMEM106B蛋白水平的差异性影响.

主要方法:

  • 从5,792个阿尔茨海默氏病病例和对照组的基因型数据被使用COJO分析.
  • 用513个个体的长读测序来注释具有结构变异的单元类型.
  • 对皮组织的蛋白质组分析 (n=182) 评估了TMEM106B C终端的丰度.

主要成果:

  • 确定了四种主要的TMEM106B单元型 (HA/Ha和HB/Hb),它们结合成HAB,HaB,Hab和HAb.
  • 哈布单元型 (AluYb8 + 185-Threonine) 与阿尔茨海默病风险增加有关,而哈布单元型 (SVs + 185-Serine) 是保护性的.
  • 蛋白质组分析显示了改变的TMEM106BC终端水平,与原型特异性疾病风险相关.

结论:

  • TMEM106B位点与神经退行性疾病的关联是由多个不同的单独类型的综合作用驱动的.
  • 特定的TMEM106B单元型赋予不同的风险和对阿尔茨海默病的保护作用,通过结构变异和序列等位基因的介导.