By Hugo Francisco de Souza
Scientists discovered a rare case of an Alzheimer’s gene carrier who remained symptom-free for 18 years beyond the expected onset, revealing potential genetic, environmental, and proteomic resilience factors.
Study: Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia. Image Credit: Kateryna Kon / Shutterstock
In a recent study in the journal Nature Medicine, researchers carried out an in-depth multi-omics longitudinal study on a Dominantly Inherited Alzheimer Network (DIAN) participant who exhibited exceptional resilience to Alzheimer's disease (AD). Despite carrying a dominant Presenilin 2 (PSEN2) p.Asn141Ile mutation, a known genetic link to Alzheimer's disease (AD), the participant displayed no AD symptoms even 18 years beyond the expected onset of the condition.
Extreme Heat Exposure Hypothesis: The participant worked for years in high-temperature environments as a naval mechanic, potentially triggering an adaptive stress response, including upregulation of heat shock proteins, which may have contributed to resilience against Alzheimer's.
2025-02-12T00:24:10Z