A new study shows that a drug for the treatment of cystic fibrosis and muscular dystrophy may cancel a genetic error that causes horoideremiyu serious eye disease. Treatment with ataluren restored REP1 protein function, which is crucial for vision in the cells of the patient's skin with choroideremia and fish models zebrafish.
Choroideremia rare genetic disease of the retina caused by any number of defects in the CHM gene that encodes the instructions associated with the creation REP1. Approximately 1 out of 3 of these defects is a nonsense mutation, stopping protein assembly.
In the new study, researchers used two independent horoideremii model. Skin cells obtained from the patient with a missing function REP1, as a model to test pharmacological therapy atalurenom and related compounds, and zebrafish, as a single nonsense mutation in an animal model of horoideremiey.
atalurenom treatment could prevent degeneration of the retina, as well as significantly reduce oxidative stress, and programmed cell death in fish zebrafish. The production REP1 increased by 23%, and its biological function has been restored from 0% to 98%. In patient cells, a significant production was observed REP1, but their biological function was restored with 0% to 42%. This suggests that a certain amount of healthy REP1 yet been established.
Results of the study show that this class of drugs can rescue retinal function in horoideremii and other genetic diseases of the retina caused by nonsense mutations. Ataluren has the greatest potential in the early stages of the disease when still functioning retina and can produce a protein at treatment.