Autosomal Dominant-Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) is an inherited disease. The symptoms usually begin in the 4th decade of life. This disease process affects the small blood vessels, particularly those supplying the retina, as well as other parts of the brain. Over a five to ten year period, there is a progressive loss of vision as well as loss of multiple cells in the brain leading to brain damage and eventually death.
CRV Research Update provided by Kathy Liszewski, Assistant Professor of Medicine and John P. Atkinson MD, Professor and Director of RVCL Research Institute at Washington University School of Medicine. Our research and collaborations in the last two years have produced exciting results. We helped to identify an entirely new function for the protein (called TREX1) that is mutated in CRV. We now know that, in addition to its role in repairing DNA, TREX1 interacts with cellular machinery to add a special type of sugar, called Nglycans, to proteins as they are produced. When this sugar polishing function is disrupted (as occurs in cells of CRV patients), other biological processes are disturbed and could cause cellular damage. However, the good news is that these new studies also identified a possible therapeutic approach that seemed to correct this defect in both mouse models of disease and in cells of patients. Kim is one of the three patients in the new clinical trail.