Colombian Woman's Unique Genes Offer Hope for Alzheimer's Breakthrough

May 19, 2025
Colombian Woman's Unique Genes Offer Hope for Alzheimer's Breakthrough
  • The team found that her DNA contained two copies of the apolipoprotein (APOE) mutation, which may have contributed to her resistance against the disease.

  • Aliria Rosa Piedrahita de Villegas, a resident of Yarumal, Colombia, carried the E280A mutation linked to early-onset Alzheimer's but remarkably did not develop the disease despite her family's history.

  • Researchers, including Dr. Kenneth Kosik and Dr. Francisco Lopera, studied her brain and discovered that she had a rare protective mutation alongside the Alzheimer's gene.

  • Notably, Piedrahita de Villegas's brain exhibited high levels of amyloid plaques but very few tau proteins, suggesting a possible protective mechanism against Alzheimer's.

  • This APOE mutation produces lipoproteins that counteract the negative impacts of amyloid plaques, providing valuable insights into potential treatments for Alzheimer's.

  • Yarumal has a notably high rate of Alzheimer's disease due to the E280A mutation, affecting nearly 6,000 residents, highlighting the genetic factors at play.

  • The E280A mutation is inherited from a common ancestor and leads to early-onset Alzheimer's, with symptoms often appearing in individuals as early as their 30s.

  • As the global Alzheimer's population is projected to reach 115 million by 2050, understanding cases like Piedrahita de Villegas's could lead to breakthroughs in prevention and therapy.

  • Dr. Kosik emphasized the significance of her unique genetic profile, noting its implications for future Alzheimer's research and treatment development.

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