Getting older is not something people admire. Your body becomes weaker and you generally start losing some of its capacities. For example, around 1 in 3000 middle-age people start experience reduction of sight. Why is that? A new study from The University of Edinburgh determined genetic reasons for the middle-age sight loss.
X-linked retinitis pigmentosa affects thousands of middle-age people every year. Image credit: Ryxhd123 via Wikimedia(CC BY 3.0)
For most people getting older has some advantages. You can relax more, societal pressure on you is smaller, you typically have more time and your children are already adults. However, deterioration of senses is something many people are afraid of, but will have to experience anyway. Loss of sight affects one in 3,000 people in the UK. But why? Scientists analysed the role of a gene known as RPGR, which changes over time damaging eye cells and causing a disorder known as X-linked retinitis pigmentosa.
This condition is a big mystery to medical science. Currently it is incurable. At first it damages night and peripheral vision, but later condition gradually worsens eventually causing blindness in middle age. This, of course, means a great reduction in quality of life at such a sensitive point in time. Scientists set out to find reasons why this happens and started by taking some skin samples of patients of X-linked retinitis pigmentosa.
Scientists took skin samples of patients and some stem cells to make light-sensing eye cells known as photoreceptors. Then they compared these cells with the ones from relatively healthy relatives of the patients. They found that photoreceptors were different in their structure. This, of course, is already suspicious, because scientists were comparing cells from related people. This means that differences (or, more likely, the reason, why photoreceptors are different) are closely related to the development of X-linked retinitis pigmentosa condition.
Then scientists performed some experiments with mice models. They showed that an RPGR gene interacts with some molecules to maintain healthy photoreceptors. When RPGR is flawed, photoreceptors cannot function correctly, leading to sight loss. So the reasons for the X-linked retinitis pigmentosa are purely genetic, which means that scientist have to look at this issue differently to find an effective treatment. Dr Roly Megaw, one of the authors of the study, said: “By furthering our understanding of the RPGR gene and its effects on photoreceptor cells, we hope our findings bring us closer to developing a possible treatment for this devastating disease”.
Eyesight is pretty much the most important sense we have. Hopefully this research will eventually lead scientists to developing a cure for a disease causing blindness to so many middle age people in the world.
Source: The University of Edinburgh