A new study of two gene mutations that provoke retinal pathology that causes vision loss in men in one case in 5000, will help to find new ways of therapy.
British researchers performed an analysis retinoskhizisa (XLRS), a hereditary disease that leads to macular degeneration, in which the retina is stratified. Not yet developed proper treatment XLRS.
Scientists have found that the cause of the disease is mutation of the protein retinoshizin.
According to Claire Beldok, professor of biochemistry at the University of Manchester and author of the study, Cryo-electron microscopy allowed us to determine the location of the mutations on the rings.
"We have found that one of the pathogenic mutations located between octameric rings, whereby retinoshizin less stable. Another mutation is located at the tip of the propeller, which we consider a new point of contact for other binding proteins in the retina, "- said the professor. By identifying mutations and displaying their locations, the research team suggests the possibility that future work will lead to new genetic developments, preventing negative impact XLRS.
The report, entitled "Structural analysis of the X-chromosome mutation retinoskhizisa reveals distant classes that have different effects on retinoshizina function" was published in «Human Molecular Genetics» magazine.