According to ScienceDaily, an international team of researchers led by scientists from the Genome Institute at Washington University School of Medicine and the University of Michigan School of Public Health, have recently discovered a gene mutation linked to age-related macular degeneration. AMD is the leading cause of blindness in Americans over the age of 50. This chronic disease causes vision loss in the center of your field of vision due to the deterioration of the macula, which is the center of the retina. Past studies, along with recent studies have assisted co-senior investigator Elaine R. Mardis, PhD with the findings in the study. Mardis expressed that past research has shown that AMD has a relationship with the compliment pathway, part of the immune system that helps immune cells fight infection. Thus, the gene variant interferes with the compliment pathway, therefore damaging the retina, leading to AMD.
In this study researcher's analyzed 57 genes in about 2,300 patients with AMD. Then, they sequenced the same genes in 789 people of the same age not suffering from the disease. The results gave two gene variants: the C3 complement gene and the alteration of one gene identified in previous AMD studies. These two genes together created a three-fold increased risk for macular degeneration. Mardis hypothesized that the mutations work together and increase the age-related macular degeneration risk by intercepting the inactivation of complement in the retina. For the future, Mardis and her co-investigators plan on expanding their look across the genome and going beyond the 10 regions of DNA that were studied in this article. They hope to identify new genes that could possibly relate to AMD.
In my opinion I feel that this is a horrible disease that can affect anyone. It has the ability to disable somebody all because they have a blurry spot in the center of one's field of vision. Mardis and her colleagues can hopefully do more studies and find more results as to what can possibly be done to prevent AMD.
This video also shows exactly how macular degeneration evolves and affects a person's vision http://www.youtube.com/watch?v=ozZQIZ_52YY
At first glance I didn't understand the picture at the end of the article, but after reading the article for the second time the picture made complete sense. AMD affects the center of the eye, therefore the person who is affected by this disease is missing the center pieces of the picture. As mentioned above it seems that doctors are making great strides in finding a cure or determining what causes AMD, so hopefully with more diagnosis and tests those who are affected by AMD will get the help and treatment they need to regain their vision back.
ReplyDelete