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CHRNA5 gene variation, independent of smoking and other environmental factors, causes COPD: Research

A single alteration in the sequence of the CHRNA5 gene is a predisposing factor, independent of the commonly known causes such as smoking and exposure to dust and pollution, that triggers chronic obstructive pulmonary disease (COPD). Path breaking research exploring causes of COPD in non-smoking populations found that a single alteration in the sequence of the CHRNA5 gene leads to inflammation, tissue remodeling, and abnormal repair of airway cells. The study conducted by a team of scientists at the University of Reims Champagne-Ardenne and Institut Pasteur, Université de Paris, in France, revealed that the gene alteration caused an increased susceptibility to environment-related stress leading to lung impairment. The study, published in Nature Communications,  noted that emphysema destroying pulmonary alveolar walls, a phenomenon observed in COPD patients, was found in the animal model carrying this version of the gene. This finding was subsequently confirmed in humans. Further research is needed down the line to define the characteristics of COPD patients carrying this mutation in order to develop personalized medicines, the researchers said in the paper.

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