Genetic diseases are passed down from parent to child through defective genes. Genes, the basic unit of heredity, carry the sequences of deoxyribose nucleic acid (DNA) which is responsible for determining the characteristics a person will exhibit. The lungs are two organs found within the chest cavity that are primarily responsible for respiration, which is the process of getting oxygen into the blood. Because all cells need oxygen, the lungs are vital organs. There are several different lung diseases caused by mutations, or changes, within genes.
Cystic Fibrosis
Cystic fibrosis (CF) is a chronic disease that affects approximately 30,000 people in the United States, as reported by the Cystic Fibrosis Foundation. CF is a genetic disease caused by a defective gene that results in the production of thick sticky mucus. This mucus clogs the lungs making breathing difficult and attracts bacteria leading to infections and inflammation. CF causes a persistent cough, wheezing, shortness of breath and over time can lead to permanent lung damage.
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is caused by a genetic defect in the gene that codes for the protein alpha-1 antitrypsin. Alpha-1 antitrypsin, produced in the liver, is responsible for protecting the lungs from the enzyme neutrophil elastase. Neutrophil elastase is a useful enzyme that digests old or damaged cells or bacteria in the lungs to promote healing. When too much neutrophil elastase is present, however, it will digest healthy lung cells, therefore causing damage to the lungs. Alpha-1 antitrypsin destroys neutrophil elastase therefore preventing lung damage.
Those who are born with alpha-1 antitrypsin deficiency do not produce enough of the alpha-1 antitrypsin protein. This allows the neutrophil elastase to get out of control resulting in damage to the lungs. Sustaining damage to the lungs promotes lung diseases including emphysema, chronic obstructive pulmonary disease, asthma and chronic bronchitis as described by the Alpha-1 Association.
Asthma
Asthma, a chronic lung disease that often begins in childhood, affects 22 million people in the United States and approximately 6 million of those are children, according to the National Heart Lung and Blood Institute. Asthma causes an increase in mucus production and inflammation of the airways, also known as the bronchial tubes. This leads to symptoms of wheezing, shortness of breath, coughing and chest tightness that if not treated can become serious.
Asthma is known to run in a family which means that it has a genetic factor. Years of research have shown that asthma is not inherited in a simple mode of inheritance. Instead it is a multifactorial disease that involves interaction between genetics and environmental factors as described by research published in the 2009 issue of Clinical and Molecular Allergy.
