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

In 2019, the WHO positioned chronic obstructive pulmonary disease (COPD) third in the global ranking of causes of death. However, some mechanisms of this debilitating chronic respiratory disease are yet to be identified. Against this backdrop, scientists at the Institut Pasteur, Université de Paris, CNRS, Inserm, University of Reims Champagne-Ardenne, Reims University Hospital and the Institut Pasteur de Lille demonstrated that substituting a single nucleotide in the gene coding for the nicotinic acetylcholine receptor* can lead to functional changes to airway cells and result in symptoms similar to COPD, independent of smoking. The scientists moreover identified the molecular mechanisms involved in this pathological phenomenon.

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* The nicotinic acetylcholine receptor is located in the cell membrane. It is activated by acetylcholine or nicotine and controls the entry of various ions, including calcium and sodium, into the cell.