Wednesday, March 17, 2010

Age-related macular degeneration

1.Age-related macular degeneration (AMD) is a disease that is known to be the most common cause of irreversible vision loss in the western hemisphere among people over the age of sixty. The disease also affects the central part of the retina, which is very important for daily activities, such as reading, driving, and recognizing faces. Some people might not even know that they have AMD because it can develop slowly. However, most people experience a rapid loss of sight in both eyes from this disease. Vision that is lost due to AMD cannot be restored, but there are treatments that can slow down its development. Regular, comprehensive eye exams are also recommended to detect any early signs of AMD.
The CFH gene was tested by 23andme for AMD. Such a gene encodes a protein that regulates the complement system, which is an important part of the immune system because it clears out pathogens and cellular debris. However, if the complement system loses control, it can lead to persistent inflammation and can damage the body’s own cells. In response to elevated levels of C-reactive protein (CRP), the CFH helps to stop the complement system from losing control. Thus, CPR is normally recruited to sites of injury, which are places where the tissue might be vulnerable to outside invaders.
Variations in the DNA sequence (SNP) in the CFH gene can affect a region of the CFH protein that is important for binding to CRP. It has been known that excess levels of CRP can lead to an overactive complement system, which damages the eye tissue. Since scientists have identified CFH SNP as a major genetic factor for AMD, it has helped to research for possible treatments.

2.A benefit for personal genetic testing is that one will know if he or she carries a gene for a life-threatening disease. The only concern for genetic testing is that it can determine whether or not someone is eligible to receive health care.

3. If I could undergo personal genetic testing for free, I would say, “No way.” I would not be able to handle the stress of knowing whether I was healthy or not. The best way is to live your life day by day and to put your health as your number one priority.

1 comment:

  1. Hi,
    I don't want to disorient you, but your answer for question three seems like you would have more to say for the concerns of genetic testing in question 2. Obviously you don't plan on getting tested. Why not say a little more your concerns with the genetic testing?
    I did find the disease description interesting, as I haven't heard about such a unique and eye disease at all.

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