For my research topic I have chosen to research Chronic Obstructive Pulmonary Disease or “COPD,” for short. COPD is a disease that targets the airways and lungs and makes it difficult to breathe. COPD is a disease that damages the airways in your lungs and can lead to difficulty doing everyday activities such as exercising. (“Chronic Obstructive Pulmonary Disease (COPD).”)
This disease progressively gets worse over time and is sometimes referred to as Emphysema or chronic bronchitis. The disease causes inflammation to the tissues in your airways; this in turn makes it more difficult to breathe due to these airways being where oxygen is transferred from the tissues in our lungs. A main cause for COPD is exposure to irritants in the air that damage your airways. Out of the 11 million cases of COPD reported in the United States yearly, about 85 to 90 percent of them are smokers who have been exposed to the harmful carcinogens in cigarettes. (“Chronic Obstructive Pulmonary Disease (COPD).”) A genetic factor plays into this disease as well. A small percentage of people have what’s known as called alpha-1 deficiency-related emphysema. (“Chronic Obstructive Pulmonary Disease (COPD).”) The protein alpha-1 produces a protein that protects the lungs and without this certain protein people are more susceptible to the disease. Common symptoms of the disease include a cough that never gets better, having trouble breathing while doing everyday activities, reoccurring respiratory infections, cyanosis, feeling lethargic or tired, and producing abnormal amounts of mucus.
As many as 24 million people are believed to have COPD in the United States. This means there is about 12 million people at any time that have COPD but have not been clinically diagnosed with the disease. COPD is also the fourth leading cause of death in the U.S., causing 127,000 deaths annually. (‘COPD FAST FACTS.”) The disease causes the United States around 50 billion dollars annually in health care cost.
Chronic obstructive pulmonary disease is a heterogenous disease. “The alpha-1 antitrypsin gene is suspected to have a role in the disease COPD” (“Emerging genetics of COPD”). COPD is a disease that is multifactorial that is caused by environmental factors such as cigarette smoking and other genetic risk factors. “Scientist have known that genetic variants in the alpha-1 antitrypsin (AAT) gene serpin peptidase inhibitor, clade A, member 1 (SERPINA1) lead to COPD” (“Emerging genetics of COPD”). There are three pathogenesis for COPD. “The first is the protease-anti-protease theory which states that here is an imbalance between proteases that digest elastin, together with other components of the extra-cellular matrix, and anti-proteases that protect against this. The second is the oxidant-antioxidant theory states that disparity between levels of harmful oxidants and protective antioxidants leads to oxidative stress, which in turn influences the actions of anti-proteases, and expression of proinflammatory mediators. Some genes that are mutated in the disease are MMP9, MMP1, MMP12, and SERPINA3. Two common signals of this disease in the DNA are microsatellites, multiple repeats of a short segment of DNA, and single nucleotide polymorphisms” (“The genetics of chronic obstructive pulmonary disease”)
People who are born with the inherited condition known as alpha-1 antitrypsin deficiency (AATD) are at risk for developing COPD. This condition inhibits the production of the proper code to make the protein alpha-1 antitrypsin. Due to this people either have not enough of the protein or do not produce any at all. “The protein protects the body against neutrophil elastase which attacks the body’s tissues such as the lungs” (“The genetics of chronic obstructive pulmonary disease”). In order to develop the disease, you have to inherit two bad genes from a parent. If you only inherit one bad copy you will be a carrier for the disease since the disease is recessive.
This disease is characterized by difficult breathing. The disease is inherited genetically by both parents giving a bad gene to the child. The alpha-1 antitrypsin gene is mutated which does not allow it to stop neutrophil elastase from attacking body tissues such as the lungs.
Chronic pulmonary obstructive disease is a disease that attacks the lungs and makes it difficult for the affected person to breathe. COPD is a serious disease in the United States and as many as 24 million Americans have the disease. Of the 24 million affected as many as 12 million have not been clinically diagnosed. Common symptoms of the disease include a cough that never gets better, having trouble breathing while doing everyday activities, reoccurring respiratory infections, cyanosis, feeling lethargic or tired, and producing abnormal amounts of mucus. The disease is caused by a mutation in the alpha-1-antitryspin gene which does not allow it to prevent neutrophil elastase from attacking the tissues in the lungs. The disease is heterogenous and is passed from parents to children that have the mutated gene. COPD is a serious disease that affects many Americans.