Grant: Project Grant

Emphysema is a common disease, affecting the lungs of 10 to 20% of Canadian above the age of 40. It progressively destroys the lungs leading to a loss in their capacity. In 2019, it still cannot be cured. Emphysema is mostly seen in cigarette smokers who also have a fragility in their lungs that, together with cigarette smoke, promotes its development. While investigating a five-generation French-Canadian family with a history of early and severe emphysema, our group has recently discovered a genetic abnormality, which is responsible for the development of the disease in this family. This is a major discovery because, to date, only one genetic disease, alpha-1 anti-trypsin deficiency, has been found to cause hereditary emphysema in humans. The proposed research will investigate how this new genetic abnormality may cause early and severe emphysema. We will be studying mice that have the same mutation as the family to investigate how the newly discovered mutation may cause emphysema and how this problem could be accelerated by cigarette smoke. We will also use clinical samples from family members that have or not the mutation to understand why the mutation causes emphysema. Finally, using pharmacological agents, we will try to activate the gene of interest to see if we can prevent the development of emphysema. Altogether, this research will advance our understanding of the development of emphysema and potentially lead to the development of a new treatment for this disease.