Colombian Woman's Unique Genes Offer Hope for Alzheimer's Breakthrough
May 19, 2025
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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