wtorek, 30 grudnia 2025

DNA connections

Researchers began investigating the link between DNA damage and aging in the late 1990s, when a German doctor examining a 15-year-old Afghan boy contacted the Erasmus Medical Assistance Center. His patient suffered from hearing and vision problems, muscle and weight loss, anemia, hypertension, and kidney failure. The researchers examined the boy's cells for the presence of DNA repair mechanisms and found almost no activity. They then examined his DNA and discovered that the boy had a mutation in a gene that plays an important role in cell repair, and that this mutation led to premature aging.

Other forms of progeria (as the disease is called), including Cockayne syndrome, cause short stature and premature aging, and ultimately death.
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