UPenn Perelman School of Medicine: Rare Disease's DNA-Damaging Mutation Could Have Consequences for More Common Conditions
June 05, 2024
June 05, 2024
PHILADELPHIA, Pennsylvania, June 5 (TNSres) -- The University of Pennsylvania's Perelman School of Medicine issued the following news release:
TREX1 is a gene that is supposed to direct the maintenance of the entire body's DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). Published in Nature Communication . . .
TREX1 is a gene that is supposed to direct the maintenance of the entire body's DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). Published in Nature Communication . . .