A remarkable study published in Nature Medicine has revealed the case of a former navy mechanic who defied the genetic odds of inherited Alzheimer’s disease (AD). The individual, carrying the presenilin 2 p.Asn141Ile mutation, remains cognitively intact at age 71 despite being 18 years past the expected age of clinical onset.
Researchers investigated genetic, neuroimaging, and biomarker data to understand potential protective mechanisms in this case. They found that tau pathology was confined to the occipital lobe without spreading, suggesting a possible explanation for the lack of cognitive decline.
The study highlights the complex interplay between genetic, biological, and environmental factors in AD progression. The participant’s prolonged occupational exposure to high heat as a naval diesel mechanic may have contributed to their lifelong resilience. Genetic analysis identified rare coding variants that could play a role in resistance to AD.
While the exact mechanisms of resistance remain unclear, this case raises new questions about potential therapeutic strategies for delaying or preventing Alzheimer’s disease. Blocking tau spread may hold promise in serving as a treatment approach. Further research is needed to determine the significance of this discovery and its implications for AD prevention.
Source: https://medicalxpress.com/news/2025-02-navy-mechanic-defied-genetic-odds.html