Video Experimental Relacionado
Updated: Jul 6, 2025
07:35
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
11.5K
La deficiencia hereditaria de CCR2 en el ser humano subyace a la enfermedad pulmonar poliquística progresiva
Anna-Lena Neehus1, Brenna Carey2, Marija Landekic3
1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris 75015, France; Paris Cité University, Imagine Institute, Paris 75015, France.
Cell
|December 29, 2023
Resumen
La deficiencia completa del receptor de quimiocinas del monocito C-C (CCR2) causa enfermedad pulmonar humana, incluida la proteinosis alveolar pulmonar e infecciones. Los niveles elevados de ligando 2 del motivo C-C en sangre (CCL-2) indican esta condición genética.
Área de la Ciencia:
- Inmunología
- La genética
- Pulmonología
Sus antecedentes:
- El reclutamiento de monocitos es crucial para la defensa del huésped.
- El receptor de quimiocinas de motivo C-C 2 (CCR2) media la migración de los monocitos.
- Los defectos genéticos en los receptores quimiocinos pueden conducir a una disfunción inmune.
Objetivo del estudio:
- Investigar el papel de CCR2 en la enfermedad pulmonar humana.
- Para identificar la base genética de un síndrome específico de pulmón e infección pediátrica.
- Establecer un marcador de diagnóstico para la deficiencia de CCR2.
Principales métodos:
- Secuenciación genética de pacientes con enfermedad pulmonar inexplicable e infecciones recurrentes.
- Ensayos funcionales de señalización y migración de monocitos.
- Análisis de las poblaciones de células sanguíneas y de la inmunidad mediada por citoquinas.
- Evaluación de las poblaciones de macrófagos alveolares.
Principales resultados:
- Se identificó una deficiencia autosómica recesiva y completa de CCR2 en nueve niños con proteinosis alveolar pulmonar (PAP) e infecciones recurrentes.
- Las variantes de CCR2 abolieron la señalización y migración de Ca2+ estimulada por CCL-2.
- Los pacientes presentaron subconjuntos normales de células sanguíneas y respuestas de citoquinas, pero un recuento reducido de macrófagos alveolares.
- Se observaron niveles elevados de CCL-2 en sangre en todos los individuos afectados.
Conclusiones:
- La deficiencia completa de CCR2 es una causa genética de PAP, enfermedad pulmonar poliquística e infecciones recurrentes en humanos.
- La alteración de la migración de monocitos dependientes de CCL-2 a los pulmones subyace a la patología observada.
- Los niveles elevados de CCL-2 en sangre sirven como un potencial biomarcador de diagnóstico para el cribado.
Videos de Conceptos Relacionados
01:23Cystic Fibrosis: Pathogenesis
244
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,...
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,...
244
01:20Chronic Obstructive Pulmonary Disease-I: Introduction
2.8K
Chronic Obstructive Pulmonary Disease (COPD) is a long-lasting respiratory condition requiring continuous attention and care. It is a progressive lung disease that leads to breathing challenges due to airflow obstruction. It manifests as persistent respiratory symptoms and restricted airflow resulting from abnormalities in the airways and alveoli, usually due to long-term exposure to harmful particles or gases. COPD mainly consists of two primary conditions: emphysema and chronic bronchitis.
2.8K
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
2.8K
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
2.8K
01:24Cystic Fibrosis: Management
166
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
166
01:20COPD: Pathogenesis and Clinical Features
279
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
279
01:22Chronic Obstructive Pulmonary Disease
1.2K
COPD is defined as a heterogeneous lung condition marked by persistent respiratory symptoms such as dyspnea, cough, and sputum production, caused by abnormalities in the airways that cause airflow obstruction.
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
1.2K