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Genetic Disoerder

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Submitted By mduenas3424
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Genetics and Inheritance
Mary Duenas
BIO/101
May 16, 2016
Mark Kato

Someone with Alpha-1 Antitrypsin (AAT) Disorder may find most everyday tasks to be nearly impossible. Simple tasks like walking or cleaning the house can become difficult chores. AAT Disorder is a genetic disorder that affects the lining of the lungs, making the body more susceptible to inhaled irritants and infections. AAT Disorder is characterized by the lack of protective protein in the liver. AAT is a protein that is made in the liver that is then released into the bloodstream. AAT affects mostly the lungs and the liver.
Alpha-1 Antitrypsin (AAT) is a protein that is made in the liver that is then released into the bloodstream. AAT protects the lungs so that they can work normally. Not having enough AAT may cause damage to the lungs and make breathing difficult. AAT Disorder may be presented as lung disease in adults and can also affect the liver. In cases where AAT Disorder affects the liver, it can cause cirrhosis. It usually occurs in adults between the ages of 20-50. It can have an impact on a small portion of children and can be associated with liver disease and cirrhosis. Symptoms include fatigue, headaches, recurrent respiratory infections, tachycardia, and vision problems. For those that have two damaged copies of the gene, symptoms may be more severe than a person who has one damaged gene and one normal gene. A blood sample must be taken before a person can be diagnosed with AAT Disorder.
An individual must inherit one abnormal gene from each parent in order to develop the disease. If a person only inherits one abnormal gene from one parent, then that individual will be a carrier. AAT Disorder is caused by mutations in the SERPINA1 gene on chromosome 14. When the SERPINA1 is mutated, the abnormal protein gets stuck in the liver and is unable to pass into the bloodstream. Currently, there is no cure for AAT Disorder. The primary goal for people who are or will be diagnosed with this disease is to control or slow down the progression of lung disease. Smoking worsens the disease and damages the lungs by increasing secretion of neutrophil elastase by inhibiting AAT.
Life expectancy for patients with AAT Disorder and chronic liver disease is significantly lower than those without chronic liver disease. Patients with AAT Disorder that do not have chronic liver disease have shown no change in normal life expectancy. AAT Disorder is seen worldwide, but is found in a much higher frequency in people of European ancestry. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent (Genetic Home Reference, 2016).
AAT Disorder is a pretty rare disorder that can be debilitating to people who are affected by it. While it is rare, it can be deadly. This is especially true in instances where the patients do not take care of themselves and continue to smoke cigarettes and inhale irritants. A diagnosis is not a death sentence and if patients take care of themselves they can prolong their lives. Scientists have learned that the disorder is genetic and someday soon may be able to test for it before birth.

References
Alpha-1 antitrypsin deficiency. (2016, May 10). Retrieved May 16, 2016, from https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency#statistics

Learning About Alpha-1 Antitrypsin Deficiency (AATD). (2012, January 04). Retrieved May 16, 2016, from https://www.genome.gov/19518992/learning-about-alpha1-antitrypsin-deficiency-aatd

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