DNA damage repair defect unifies theories of aging

A novel form of progeria shows aging has both DNA damage and genetic components

Jeffrey M. Perkel
Dec 19, 2006
Analysis of a novel form of progeria caused by a mutation in a DNA repair gene has unified two competing theories of aging, according to a report in Nature. DNA damage induces aging, but at a rate that is genetically determined, Jan Hoeijmakers, head of the department of genetics at Erasmus Medical Center, Rotterdam, the Netherlands, and colleagues determined after studying a patient with the disease as well as a knockout mouse model.The novel disease, which the authors called XFE progeroid syndrome, presented as a blend of progeria, or premature aging, and symptoms more typically seen in DNA damage repair-related diseases like xeroderma pigmentosum (XP) or Cockayne syndrome. The 15-year-old patient studied showed delayed growth and problems with kidney and liver function, as well as features normally associated with aging, like hypertension. But he also displayed the increased sun sensitivity that is the hallmark of a DNA repair...