A man with a genetic mutation that almost guaranteed he would develop early-onset Alzheimer’s disease by his 50s has defied expectations and remains symptom-free until the age of 75. The case study, published in Nature Medicine, highlights the complexities of neurodegenerative diseases and raises questions about the factors that may contribute to an individual’s resilience against Alzheimer’s.
Doug Whitney, now 75, carries a mutation in the PSEN2 gene, which is associated with dominantly inherited Alzheimer’s disease (DIAD). Despite this genetic predisposition, Whitney has shown no signs of the condition. Researchers used brain scans to study his brain and found abnormal protein clumps called amyloid-beta plaques, but unlike other DIAD patients, the tau protein tangles were contained within a small section of the brain.
The team suggests that exposure to high heat as a shipboard mechanic may have contributed to Whitney’s resilience. They also discovered higher-than-normal levels of “heat-shock proteins” in his cerebral spinal fluid, which could be linked to his time working in boiling engine rooms. These proteins help protect the body from environmental stresses and may prevent misfolding proteins in the brain.
While this explanation is speculative, it highlights the need for further research into the factors that influence an individual’s risk of developing Alzheimer’s disease. The study adds to a growing understanding of molecular mechanisms that can slow or halt the progression of neurodegenerative diseases.
Source: https://www.livescience.com/health/alzheimers-dementia/man-nearly-guaranteed-to-get-early-alzheimers-is-still-disease-free-in-his-70s-how