A man who could be resistant to Alzheimer’s disease may offer a way for scientists to fight the terminal illness.
The anonymous man hails from a large family in Oklahoma that suffers from rare gene mutation which causes early-onset Alzheimer’s. But the pensioner in his 70s has managed to maintain his cognitive health while others in his family have developed the disease in their forties and fifties.
The case is prompting researchers to reconsider the fundamental causes of Alzheimer’s and could pave the way for new treatments that might prevent or delay the disease for millions worldwide.
Alzheimer’s disease, a progressive form of dementia, is known for its devastating effects, including memory loss, confusion, and cognitive decline. It is one of the leading causes of death in the UK and the United States. Current treatments are limited to temporary symptom management and do little to address the underlying causes of the disease.
For years, scientists have focused on identifying the triggers of Alzheimer’s, with particular attention to the role of two proteins in the brain: amyloid and tau. The prevailing theory has been that amyloid plaques build up in the brain, leading to the formation of tau tangles, which disrupt brain function and ultimately lead to memory loss and cognitive decline.
However, the man from Oklahoma has brought a new dimension to this understanding. Unlike other members of his family, who have been diagnosed with Alzheimer’s at an early age due to a genetic mutation, he has reached his mid-seventies without any signs of the disease.
Scans of his brain show that while he does have excess amyloid buildup, he has a notably small accumulation of tau, which is considered one of the hallmark features of Alzheimer’s.
This discrepancy has led scientists to believe that the lower levels of tau might be a critical factor in delaying or preventing the onset of Alzheimer’s symptoms, despite the presence of amyloid.
The family has been a subject of scientific study for years, as their genetic mutation is tied to a rare form of Alzheimer’s linked to a gene called PSEN2. This mutation leads to the early accumulation of both amyloid and tau, often causing Alzheimer’s symptoms to appear in middle age.
However, this man’s case challenges the established understanding of how Alzheimer’s develops. Researchers believe that the protective factor in his case could be the unique way in which amyloid and tau interact in his brain, offering hope that such insights could lead to new strategies for preventing the disease in others.
Dr. Claire Durrant, a neuroscientist at the University of Edinburgh, who was not involved in the study, highlighted the importance of this finding. She told The i newspaper: “That one person could potentially change the face of Alzheimer’s disease therapies.”
This case could be a turning point in Alzheimer’s research, as scientists explore how genetic mutations, brain chemistry, and protein build-up interact in a more complex manner than previously understood.
If scientists can identify the genetic or biological factors that protect certain individuals from Alzheimer’s, it may be possible to develop treatments that mimic these effects in the wider population.
For example, therapies could be developed to prevent the build-up of tau or to modulate the interaction between amyloid and tau in the brain, potentially delaying the onset of symptoms or even preventing the disease altogether.
Notable public figures who have battled with Alzheimer’s or its genetic form include the beloved actor Glen Campbell, who was diagnosed with Alzheimer’s in 2011 and bravely shared his struggle with the public.
Another tragic case is Rita Hayworth, the legendary actress who was diagnosed with early-onset Alzheimer’s in the 1980s, leading to a public awareness campaign about the disease.
Meanwhile, Ronald Reagan, the 40th President of the United States, announced in 1994 that he had been diagnosed with Alzheimer’s, inspiring further research into the disease and its effects on individuals in leadership roles.