(SVD) causes damage to small arteries and capillaries that reduces blood flow to sensitive organs like the eye, brain, and kidney and can be triggered by aging, high blood pressure, and genetic abnormalities. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is an SVD caused by an inherited mutation in the TREX1 gene. It’s rare, with fewer than 200 known cases worldwide.
Symptoms develop between 35 and 55 and affect the liver, kidneys, eyes, and brain, leading to organ damage and failure and early death. Scientists were aware of the link between the TREX1 gene and RVCL but not how the mutated gene caused small vessel damage. Now, a new study led by researchers from the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) and the Brain Research Institute at Niigata University, Japan, has shed light on the mutated gene’s mechanism of action.
And the findings may have repercussions beyond RVCL. “It seems that accelerated DNA damage in RVCL causes the premature aging of certain cells, including the cells in the blood vessel wall,” said Jonathan Miner, an associate professor of rheumatology at the Perelman School of Medicine and the study’s corresponding author. “If this is the case, then targeting TREX1 could have very broad implications for the treatment of many human diseases linked to aging, including cardiovascular disease, autoimmune disorders, and cancer.
Many factors contribute to aging, one being DNA damage. DNA integrity i.
