Impact of different types of modification of the gene for dystrophin in the vision of patients with muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy of (BMD) are neuromuscular disorders miotônicos recessive genes linked to mutations in the gene dmd (located in the XP21 on the short arm of chromosome X. This gene is responsible for the production of the protein dystrophin (Dp427) and its by-products such as, for example, protein dp260, required for the proper functioning of the retina and, therefore, for the normal processing of visual information. The objective of this project is to evaluate changes in visual functioning due to mutations in the dmd gene through electrophysiological visual evaluation tests in patients with DMD (n H 30) and in patients with BMD (n H 15). The results will be compared with that of healthy volunteers (n H 30). For the analysis of results will be considered the cognitive dysfunctions of the patients. The patients included in the study should have the molecular diagnosis of the disease pointing the location of genetic modification. The tests will be applied with portable systems that allow you to evaluate the patients outside the laboratory. The results will contribute to the better detailing of human vision in relation to the various by-products of the gene dmd greater knowledge about what mechanisms visuals are affected by the disease. On the one hand, the study will help to understand how to see patients with DMD and BMD. On the other hand, knowing in detail the visual disorders caused by mutations in the gene dmd, in future, it will be possible to evaluate the impact of therapeutic interventions for the treatment of DMD in the visual system. (AU)