The discovery of a new gene linked to genetic eye diseases

Scientists from US health institutions make it possible to identify a gene responsible for some types of genetic retinal diseases, and these diseases form a set of disorders that lead to damage to the retina, which is light -sensitive at the back, which threatens the vision. Genetic retinal diseases affect more than two million people around the world, but each of these diseases is rare, which hinder the efforts of scientists to find a sufficient number of patients to study and perform clinical trials to develop effective treatments. The researchers linked the ubap1l and different forms of retinal atrophy, including those affecting the yellow spot that is responsible for the central vision, diseases affecting the conical cells responsible for color vision, and other diseases that affect both conical and stick cells responsible for the night vision according to the results “Gama. The ubap1l gene is known as one of the genes that organize protein in cells; This gene is mainly expressed in retinal cells, such as mesh pigment cells and light cells, and it is believed that the gene plays a role in the treatment and recycling of proteins in the cells, which contributes to the health and work of cells properly. The lead author of the study, “Bin Joan”, which is the head of the genome al -Aini -lab at the American Institute of Al Ain, explained that the patients included in the study showed symptoms and features similar to other genetic retinopia diseases, but the reason for their condition was uncertain, at a list of more than 280 genes responsible for these multiple diseases. The genetic assessments of six patients revealed the presence of four mutations in the UBAP1L gene, coding a protein that is plentiful in the retinal cells, including the gauze paint cells and the receipts of light. Studies indicate that these mutations prevent the gene from producing functional protein. These results will help to direct future studies, especially as the defined mutations are characteristic of a specific geographical region, as five of the six families who participated in the study from South or Southeast Asia or Paulisia, areas not adequately proposed in genetic studies.