Numerous people still suffer from eye diseases, which in the worst case can lead to blindness and whose causes are influenced by genes that are still unknown. A team of scientists from LOEWE-TBG, the Dresden Max Planck Institute for Molecular Cell Biology and Genetics and the TU Dresden has now carried out comprehensive genome analyzes in which they came across 15 previously unknown "eye genes" and 14 others confirmed genes that are important for vision. The study is groundbreaking as it uses genome analysis to predict gene functions and thus forms a basis for further research into vision.
Reduced vision often severely affects people in their everyday lives and their quality of life. In contrast, for some animals a "clear" vision is not necessary and has not evolved or even declined in the course of evolution. Among the most well-known mammals with low vision are the big brown bat, and among the rodents, the blind mouse and the naked mole rat. Animals closely related to them, on the other hand, have excellent vision: flying foxes, which do not use echolocation, and rodents such as rats and guinea pigs. This is where the study by the research team from Frankfurt and Dresden, published in the specialist journal "eLife", comes into play.
One of the 29 genes thought to play a role in vision caught the research team's particular interest: SERPINE3. In experiments on zebrafish, they were able to show that deleting this gene leads to changes in the condition of the eyes and retina. “Other studies also link SERPINE3 to genetic variants that affect characteristics in the human eye. Therefore, we suspect that disruption of the gene contributes to eye traits and age-related eye diseases in humans.”
The publication is among the few studies that use the gene loss pattern to predict gene function. "This makes it possible for us to track down previously unknown 'eye genes'," says Prof. Dr. Michael Hiller from LOEWE-TBG. “We combine comparative genomics studies with experiments in model organisms to identify these genes and predict their function. In addition to SERPINE3, we found some other exciting genes in our research that have not yet been explored, but which probably contribute to the fact that the vision of animal species differs from one another. We see great potential here for future eye disease research.”