Researchers at the National Institutes of Health recently completed a study, which looked at how genes in the immune system may play a role in age-related macular degeneration (AMD). The findings of the study revealed that changes in these genes may lead to macular degeneration.
Three sets of twins (one identical and two fraternal) where only one twin in each pair had AMD were evaluated in the study. Researchers specifically looked at whether changes in DNA methylation might play a role in AMD. DNA methylation is a chemical reaction that switches off genes. Researchers identified decreased levels of DNA methylation on the IL17RC gene. This decrease in DNA methylation increased levels of IL17RC proteins in the twins who had macular degeneration. The study findings were then validated by comparing seven siblings with and without AMD as well as 202 AMD patients and 96 control subjects without AMD.
After reviewing the data, researchers believe that environmental factors influence DNA methylation and that in turn causes increased levels of the IL17RC protein in the retina resulting in inflammation and damage to the retina. The next step in the study is to look at what the environmental factors may be responsible for regulating the IL17RC protein and what therapies could be used to reverse this regulation in people with AMD.