The lungs are made up of a number of tissue types that facilitate inspiration, the transfer of oxygen and carbon dioxide between the air and the bloodstream, and expiration of carbon dioxide. Lungs connect to the windpipe, or trachea, by a number of tubes called bronchi and bronchioles. The bronchioles form a branching structure that connects to a number of structures called alveoli, which ultimately allow for gas transfer between the blood and the air. Proper lung function relies on a number of factors, including proper development and tissue maintenance. Disruption of lung structure or function can prove fatal if the lungs cannot supply the body with sufficient oxygen.
Alpha-1 Antitrypsin Deficiency
One potentially fatal genetic disease that affects the lungs is alpha-1 antitrypsin deficiency, or AATD. The disease has a genetic basis associated with mutations to a gene called serpina1. Patients with AATD lack a functional alpha-antitrypsin gene. Under normal conditions, the protein associated with the gene breaks down an enzyme secreted by lung cells upon exposure to stress or toxins. In patients with AATD, this harmful enzyme accumulates and begins to damage lung tissue, leading to difficulty breathing, wheezing, and rapid heartbeat. In some cases, AATD also leads to liver disease and cirrhosis, and commonly leads to emphysema, both of which can prove fatal. The Medical News indicates that advances in gene-based therapies may provide an effective treatment for AATD in the future.
Interstitial Lung Disease
Another potentially fatal genetic lung disease is interstitial lung disease, a disorder characterized by the development of scar tissue within the lungs that prevents proper lung functioning. A major contributor to the development of interstitial lung disease is disruption of surfactant. In normal lung tissue, surfactant is a substance secreted by the lung cells that helps support lung structure and aids in oxygen and carbon dioxide gas transfer. In patients with interstitial lung disease, mutations to surfactant-related genes lead to abnormal surfactant functioning, which leads to scarring. A study published in "The American Journal or Respiratory and Critical Care Medicine" in 2002 indicates that mutations to surfactant protein C lead to inherited forms of interstitial lung disease. The disease is progressive and incurable, and can ultimately prove fatal.
Cystic Fibrosis
Cystic fibrosis is another genetic and potentially fatal disease that affects the lungs. Patients with cystic fibrosis have abnormal mucus glands that lead to excess mucus production. Both the bronchi and the airways normally contain mucus-secreting cells to help protect lung tissue, so patients with cystic fibrosis often experience excess mucus production in the airways and lungs. As the disease progresses, mucus accumulates within the lungs, leading to scarring and cyst formation. Cystic fibrosis is linked to genetic mutations to a gene called CTFR, reports the Genetics Home Reference. These mutations cause mucus cells to secrete abnormally thick mucus, which blocks the airways and leads to lung damage. This progressive damage to the lungs can eventually prove fatal, as the lungs can no longer function properly.
