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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: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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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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Pneumonia II: Pathophysiology01:29

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

Stages of Infection

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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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Defense Against Bacterial Pathogens01:31

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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.
Phagocytes
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Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
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Ciencia básica y patogénesis

Makaela Mews1, Yousef Mustafa1, Nicholas R Wheeler2

  • 1Systems Biology & Bioinformatics, Department of Nutrition, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
Resumen
Este resumen es generado por máquina.

Las variantes genéticas influyen en el riesgo de la enfermedad de Alzheimer (EA) al alterar la expresión génica, con diferencias significativas observadas en diversas poblaciones. Estos hallazgos resaltan el papel de la regulación genética en la patogénesis de la EA y la necesidad de estudios multicohorte.

Palabras clave:
variantes genéticasexpresión génicaenfermedad de Alzheimerpatogénesisestudios multicohorte

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Área de la Ciencia:

  • Genética
  • Neurociencia
  • Genómica

Sus antecedentes:

  • La variación genética es un factor clave en el riesgo de la enfermedad de Alzheimer (EA).
  • Los cambios en la expresión génica están relacionados con la EA, pero se comprenden mal.
  • Este estudio investiga cómo las variantes genéticas afectan la expresión génica en la EA en diferentes etnias.

Objetivo del estudio:

  • Examinar el impacto de las variantes genéticas en la expresión génica de sangre total en la enfermedad de Alzheimer (EA).
  • Identificar los loci de rasgos cuantitativos de expresión (eQTLs) y su interacción con el estado de EA en diversas cohortes.
  • Comprender la regulación genética cohorte-específica de la expresión génica relevante para la EA.

Principales métodos:

  • Se utilizó la secuenciación de ARN y los datos genotípicos imputados por TOPMed del Proyecto de Secuenciación de la Enfermedad de Alzheimer (ADSP).
  • Se realizó un análisis de loci de rasgos cuantitativos de expresión (eQTL) estratificado por cohorte, que incluye el estado de EA y los términos de interacción.
  • Se ajustó por covariables como el sexo, la edad, la subestructura de la cohorte, las proporciones de tipos de células y los factores experimentales.

Principales resultados:

  • Se identificaron 68 eQTLs de interacción significativos (ieQTLs) compartidos en al menos dos cohortes, incluido CACNG6.
  • Se observó un enriquecimiento de genes regulados por los factores de transcripción ZFHX3 y ELF2, lo que sugiere alteraciones regulatorias inmunitarias.
  • Se encontraron ieQTLs cohortes-específicos sustanciales (4.733 en afroamericanos, 4.322 en blancos no hispanos, 3.084 en hispanos caribeños, 1.436 en peruanos), con un solapamiento del 20-30% con loci de EA conocidos.

Conclusiones:

  • El análisis de eQTL reveló diferencias significativas cohortes-específicas en la regulación de la expresión génica relacionadas con la EA.
  • La variación genética parece modular las vías relacionadas con el sistema inmunitario involucradas en la patogénesis de la EA.
  • Los estudios multicohorte son cruciales para desarrollar terapias efectivas para la enfermedad de Alzheimer.