Chronic obstructive pulmonary disease (COPD) is not only due to environmental factors, contrary to what we thought so far.
- Chronic obstructive pulmonary disease (COPD) is a disease that is still relatively unknown to the general public.
- However, it is not uncommon: in 2010, the number of people affected in France was estimated at 3.5 million, or 7.5% of the population.
While chronic obstructive pulmonary disease (COPD) is traditionally associated with tobacco and air pollution, new French research has just shown that some patients actually have genetic predispositions.
CHRNA5 gene mutation
The scientists, published in the journal Nature Communicationshave shown in particular that the modification of a gene can lead to functional changes in the cells of the airways and lead to symptoms similar to those of COPD.
Following research carried out on mice, the histological analysis of cells from nasal polyps taken from 123 non-smoking patients at the Reims University Hospital thus established an association between the remodeling of the epithelium and the mutation of the CHRNA5 gene. “This version of the gene would constitute a genetic predisposing factor for the disease, independent of smoking and atmospheric pollutants”, comments Philippe Birembaut, researcher at Inserm and co-author of the study.
A future treatment?
In vitro analysis of animal cells has also made it possible to understand the molecular mechanisms involved in the development of COPD. This identification could constitute a pharmacological target for the development of a future treatment. “One of our goals is to define the characteristics of COPD patients who carry this mutation in order to develop personalized medicine”, concludes Uwe Maskos, director of the Integrative Neurobiology of Cholinergic Systems Unit at the Institut Pasteur.
Third leading cause of death in the world, chronic obstructive pulmonary disease (COPD) is a very debilitating chronic respiratory disease for those who suffer from it.
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