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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.
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

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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

Wenwen Li1

  • 1Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, Beijing, China.

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概括
此摘要是机器生成的。

一个新的ZDHHC21基因突变 (p.T209S) 与一个中国家庭的家族性阿尔茨海默病 (FAD) 有关. 这一发现突显了异常蛋白质棕化作为一种新的FAD机制,提供了潜在的治疗点.

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科学领域:

  • 遗传学和分子生物学
  • 神经科学是一个神经科学.
  • 病理学 病理学 病理学

背景情况:

  • 家庭性阿尔茨海默病 (FAD) 与APP,PSEN1和PSEN2中的突变有关,但这些仅占病例的10-20%.
  • 遗传基础和FAD的致病机制仍然不完全理解.
  • 识别新的基因和途径对于理解FAD病理生物学至关重要.

研究的目的:

  • 为了识别家族性阿尔茨海默病 (FAD) 背后的新型遗传突变和致病机制.
  • 调查ZDHHC21基因变异p.T209S在FAD病变发生中的作用.
  • 探索异常蛋白棕化作为FAD的潜在治疗点.

主要方法:

  • 对具有FAD血统的家庭成员进行了exome测序.
  • 使用CRISPR/Cas9.9生成了一个ZDHHC21T209S/T209S敲入鼠标模型.
  • 认知功能,突触可塑性,Aβ和tau病理和蛋白质棕化被评估使用行为测试,电生理学,生物化学测试和免疫染色.

主要成果:

  • 在汉族中国家族中,发现了一种新的ZDHHC21基因变异 (p.T209S),并与FAD共同分离.
  • ZDHHC21T209S/T209S小鼠表现出认知障碍和突触功能障碍.
  • ZDHHC21 p.T209S突变增强了FYN和APP棕化,导致NMDAR2B过度活化,兴奋毒性,突触功能障碍,并可能增加Aβ生产.

结论:

  • ZDHHC21 p.T209S 是一种新型的候选因果突变,在已识别的中国血统中为FAD.
  • 由ZDHHC21突变调解的异常蛋白质棕化代表了FAD的新型致病机制.
  • 为了开发FAD治疗干预措施,需要对ZDHHC21介导的棕细胞代谢进行进一步的研究.