Thursday, March 18, 2010

Alpha-1 antitrypsin deficiency

1. The alpha-1 antitrypsin (AAT) protein protects the body, especially fragile lung tissues, from the damaging effects of a powerful enzyme called neutrophil elastase that is released from white blood cells. In AAT deficiency, a genetic mutation reduces levels of the protective protein in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can inhibit what little AAT protein an affected person does have, increases the risk of lung disease.
AAT deficiency is a genetic disorder caused by mutations in the gene encoding AAT. These mutations trap the protective protein in the liver, reducing its levels in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can actually inhibit what little AAT protein an affected person's lungs do contain, increases the risk of COPD.
2.The benefit of personal genetic testing is that person can know if he/she is acquired to certain disease(s) and can make different life choices, which possibly will help to prevent the disease from occurring. Genetic testing provides important information for diagnosing, treating, and preventing of some diseases. The concern of personal genetic testing is that may open up ethical or psychological problem. Person may fall into depression by being told that he/she might develop a disease(s) that are unpreventable and can not be treated.
3. Even if I would have a chance to undergo personal genetic testing from 23andMe for free, I would not do it. I do not want to know what kind of diseases I may have. I want to deal with problems as they arise, and do not want to be afraid of things that may or may not happened.

1 comment:

  1. I think it's interesting that a gene mutation can cause COPD. That's probably how some people get it when they weren't smokers.

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