Hereditary Emphysema
Emphysema is a pulmonary condition that causes difficulty in breathing. Emphysema results in damaging of air sacs in the lungs. The lung walls enlarge and rupture, which leads to large air sacs being created instead of small air holes. For people suffering from Emphysema it means that they have large and damaged air sacs, which results in reduced surface area for the exchange of oxygen and carbon dioxide in and outside the bloodstream (Molfino, 375). At the early stages, symptoms of Emphysema may include chronic cough and shortness of breath. The primary cause of Emphysema is smoking, but the condition is also genetic, meaning it can be inherited from one family generation to the other. In the case of inherited Emphysema, the condition is caused by Alpha-1 Antitrypsin Deficiency (Alpha-1). The damage caused by Emphysema is a permanent one; recovering to breath properly is almost impossible to be fully recovered.
Mutation of the SERPINA 1 gene is the leading cause of Alpha-1 Antitrypsin Deficiency (Alpha-1), which is inherited in a co-dominant way. SERPINA 1 is a gene that instructs the production of Alpha-1 Antitrypsin protein. In return, Alpha -1 protein offers to prevent the lungs from damage by regulating the production of neutrophil elastase enzyme, which can cause enlargement of the lung walls (Bossé 430). Usually, Neutrophil elastase is produced to fight infections by the white blood cells, but the enzyme is can also attack healthy tissues such as the lung. Therefore, mutations of the SERPINA 1 gene cause Emphysema because it leads to a shortage of Alpha-1 Antitrypsin protein or to the production of an abnormal form of this protein that cannot control neutrophil elastase. The uncontrolled neutrophil elastase attacks the lungs, which can consequently lead to Emphysema.
Works cited
Bossé, Y., Lamontagne, M., Gaudreault, N., Racine, C., Levesque, M. H., Smith, B. M., … & Tremblay, V. (2019). Early-onset Emphysema in a large French-Canadian family: a genetic investigation. The Lancet Respiratory Medicine, 7(5), 427-436.
Molfino, N. A. (2020). Hereditary Pulmonary Emphysema. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (pp. 361-403). Academic Press.