Eighteen research groups comprising international teams have successfully identified seven new loci (regions of the human genome) that are connected with advanced age-related macular degeneration (AMD). The team undertook a deep study to understand the genetic variations associated with AMD. Over 17,000 people with advanced AMD and over 60,000 people with normal vision (controls) were studied. The results have been published in Nature Genetics.
AMD is considered to be one of the leading causes of blindness in people over 60 years. In India, 10 to 20 per cent of people over 60 are said to be suffering from advanced AMD. In India, the 19 loci identified account for about 30 percent of the variability in diseased risk. Rods and cones, essential for vision, are concentrated in the central region of the retina called macula. AMD affects this.
Reading, writing, and face recognition, to name a few, are affected by macular degeneration. Age is the biggest risk factor but also other factors like smoking, diet, alcohol consumption, diabetes and genetic risk factors do have significant influence.
The discovered seven loci will be of big help in providing therapies. A spokesperson of a leading vision care unit in Southern India known as Sankara Netralaya told mediapersons: “We have found an association of the loci with AMD. This will help us in future studies for developing therapies that are directed at particular set of genes so the vision is retained for a longer period of time.”
The spokesperson added, “Providing genetic treatment is still far away, but we have identified the loci which code for specific proteins. And these proteins may be responsible in some ways for maintaining vision. Even though we are not able to replace or repair the faulty genes, we can always supplement or replace the protein which is not being produced.”
In other words, the fact is the biochemical factors that get altered as a result of the faulty genes can always be supplemented.
