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Chronic obstructive pulmonary disease: a genetic mutation confirmed as a predisposing factor

 Last Update: 2021-12-28
 Source: Internet
 Author: User

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basal ganglia disease

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Picture: Airway basal cells from an animal model, marked with cytokeratin 14 in red (a specific marker)

Source: Pasteur Institute Cholinergic System Comprehensive Neurobiology

In 2019, the WHO listed chronic obstructive pulmonary disease (COPD) as the third leading cause of death in the world

Chronic obstructive pulmonary disease (COPD) is a progressive chronic respiratory disease characterized by permanent obstruction of the airway

Previous genetic studies in humans initially linked the disease to the gene encoding the subunit of the nicotinic acetylcholine receptor (nAChR) located on chromosome 15

In animal models carrying this version of the gene, studies have revealed the pathogenesis of emphysema destroying alveolar walls, which is a phenomenon observed in COPD patients

The results of this study were subsequently confirmed in humans

In addition, through in vitro analysis of animal cells expressing modified nicotinic receptors, the signal pathways involved were determined

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