When Doug Whitney turned 50, his wife and children began to discreetly monitor the first signs of an illness that seemed inevitable. Her mother, her older brother, and nine of her thirteen siblings had died young, devoured by a genetic mutation that condemned its carriers to develop early Alzheimer’s.
Yet today, at age 76, Doug is still here.
Cheating death. I remembered Whitney’s story a few days ago the new york times in a report. The man continues to live a normal life, lucid, driving and remembering names. Of course, from time to time he goes to Washington University, where since fourteen years ago Scientists are trying to figure out how the hell he managed to escape his biological destiny.
His case (that of a man who should have gotten sick twenty-five years ago and did not) is a unprecedented rarity in medical history: an open window towards what could be the key to stopping, treating or even curing one of the diseases most devastating of the world.
A lineage marked by loss. Apparently, the Whitney family carries a mutation in the gene Presenilin 2one of three known to cause early-onset hereditary Alzheimer’s. Its origins go back to German settlers settled along the Volga River in the 18th century and, in recent generations, to the Oklahoma countryside. Symptoms usually appear between the ages of 44 and 53, followed by rapid deterioration.
When Doug passed that age without signs of the disease, he didn’t even believed it possible. By participating in a genetic studydiscovered that he was a carrier of the mutation, but his brain remained unscathed. Since then, scientists consider it an “Alzheimer’s escapee”: a subject that defies the laws of genetics and offers a unique opportunity to understand what mechanisms can stop the progression of the disease.
Contradicting science. The analyzes have revealed a disconcerting find. Whitney’s brain is saturated with plaques of amyloid, the protein that accumulates decades before symptoms, but hardly shows traces of tauthe protein that causes cognitive decline. In other words: your brain shows the trace of the disease, but not its effects. Something (perhaps a combination of genes, molecules or environmental factors) has broken the chain between both phases.
Among the possible causes, researchers they point out a less inflammatory immune system than their affected relatives and an unusually high concentration high protein thermal shock, responsible for preventing other proteins from folding incorrectly. Paradoxically, his past in the Navyworking for years in engine rooms at more than 40 degrees, could have stimulated that protective biological response.
New sentinels of mystery. The family enigma continues in the next generation. His son Brian, 53, inherited the mutationbut for now he is still healthy. Participate in clinical trials on anti-amyloid drugs and undergoes regular tests to measure his cognition.
No one knows if his protection comes from genetics or medicine, but his case suggests that the combination Both pathways (her father’s natural factors and experimental therapies) could offer a roadmap toward prevention. His teenage daughter, aware of the family history, has already expressed her willingness to undergo testing genetics upon reaching the age of majority. The Whitney family, which for generations suffered in silence, has thus become an essential piece of the global scientific puzzle.
Beyond chance. Be that as it may, the case of Doug Whitney has revived a profound debate about the limits of the genetic determinism. Until now, Alzheimer’s seemed an unavoidable destiny for those who inherited mutations like theirs. However, his resistance (and that of two other cases documented in Colombia) demonstrates that there are natural mechanisms capable of stopping the disease even when biological markers are present.
Grasp how it is produced This dissociation could open the door to therapies that act not by eliminating amyloid, but by preventing it from triggering the destructive tau cascade. As summarized in the Times neurologist Randall Bateman, leader of the study, “we have not yet found the needle in the haystack, but we know that it is there, and that its value is incalculable.”
Doug Whitney, the man who should have forgotten his name decades ago, has unwittingly become the living memory of a scientific hope.
Image | Pexels, Jason Drees/ASU
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