Alpha 1-Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is caused by mutations in the serpina1 gene on chromosome 14. The serpina1 gene codes for the Alpha-1 antitrypsin (AAT) enzyme which is a protein that protects the lungs, and is made in the liver.This deficiency occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin. Without the protection of this protein, the lungs are more sepetable to be attacked by neutrophil elastase. Neutrophil elastase is an enzyme that is made by white blood cells and it fights infections. When AAT is not is not released into the lungs, neutrophil elastase attacks it. Not only does it affect the lungs but also the liver. The low level of this protein in the blood occurs because …show more content…
This can cause liver disease and a decrease of AAT in the blood that which leads to lung disease. Those who are affected with alpha-1 antitrypsin deficiency can quite often not even have symptoms. Showing early signs of symptoms usually ranges between 20 and 50 years old. However when they arise many symptoms regarding the lungs may include, shortness of breath, wheezing, chronic bronchitis and recurring chest colds. Symptoms in the liver may include unexplained liver disease, elevated liver enzymes, eyes and skin turning yellow, swelling of the abdomen or legs and vomiting blood. If diagnosed with disease, there is no treatment or much prevention for this, because it is a genetically inherited disease. Medicine and antibiotics can be used to manage symptoms but due to the fact that it is a genetically inherited disease there is not much prevention that can be put into place. Be that as it may not smoking or using tobacco can prevent the lung diseases that correlate. Alpha-1 antitrypsin deficiency is a recessive disorder. Those with Alpha-1 have two abnormal alpha-1 antitrypsin genes. One from …show more content…
Most people have two normal copies of the alpha-1 antitrypsin gene. But individuals with AATD have one normal copy and one damaged copy, or they have two damaged copies. A child must inherit one abnormal gene from each parent to develop the disease. If a child inherits a normal gene from one parent and an abnormal gene from the other, he or she will only be a carrier. Carriers produce lower-than-normal levels of the alpha-1 antitrypsin protein, but they still have enough of it to protect their lungs. According to the U.S National Library of medicine “Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry.” Even though many are affected, with proper treatment and some lifestyle changes, many go on to live normal and healthy lifestyles. The most common cause this deficiency is a single base-pair substitution leading to a glutamate to lysine mutation. The mutation that causes this disease is frameshift and deletion. Frameshift mutation is when their is an addition or deletion of one or more bases to a gene. In this case it is a deletion. This disrupts the reading frame,
Alpha-1 antitrypsin deficiency is caused by mutations in the serpina1 gene on chromosome 14. The serpina1 gene codes for the Alpha-1 antitrypsin (AAT) enzyme which is a protein that protects the lungs, and is made in the liver.This deficiency occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin. Without the protection of this protein, the lungs are more sepetable to be attacked by neutrophil elastase. Neutrophil elastase is an enzyme that is made by white blood cells and it fights infections. When AAT is not is not released into the lungs, neutrophil elastase attacks it. Not only does it affect the lungs but also the liver. The low level of this protein in the blood occurs because …show more content…
This can cause liver disease and a decrease of AAT in the blood that which leads to lung disease. Those who are affected with alpha-1 antitrypsin deficiency can quite often not even have symptoms. Showing early signs of symptoms usually ranges between 20 and 50 years old. However when they arise many symptoms regarding the lungs may include, shortness of breath, wheezing, chronic bronchitis and recurring chest colds. Symptoms in the liver may include unexplained liver disease, elevated liver enzymes, eyes and skin turning yellow, swelling of the abdomen or legs and vomiting blood. If diagnosed with disease, there is no treatment or much prevention for this, because it is a genetically inherited disease. Medicine and antibiotics can be used to manage symptoms but due to the fact that it is a genetically inherited disease there is not much prevention that can be put into place. Be that as it may not smoking or using tobacco can prevent the lung diseases that correlate. Alpha-1 antitrypsin deficiency is a recessive disorder. Those with Alpha-1 have two abnormal alpha-1 antitrypsin genes. One from …show more content…
Most people have two normal copies of the alpha-1 antitrypsin gene. But individuals with AATD have one normal copy and one damaged copy, or they have two damaged copies. A child must inherit one abnormal gene from each parent to develop the disease. If a child inherits a normal gene from one parent and an abnormal gene from the other, he or she will only be a carrier. Carriers produce lower-than-normal levels of the alpha-1 antitrypsin protein, but they still have enough of it to protect their lungs. According to the U.S National Library of medicine “Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry.” Even though many are affected, with proper treatment and some lifestyle changes, many go on to live normal and healthy lifestyles. The most common cause this deficiency is a single base-pair substitution leading to a glutamate to lysine mutation. The mutation that causes this disease is frameshift and deletion. Frameshift mutation is when their is an addition or deletion of one or more bases to a gene. In this case it is a deletion. This disrupts the reading frame,