Washington’s man seems destined to grow up alzheimer’s disease — but against all genetic odds, he has avoided common dementia for decades.
Researchers at Washington University School of Medicine in St. Louis recently published a study focusing on Doug Whitney, 76, who lives near Seattle.
he has rare genetics genetic mutation Presenilin 2 (PSEN2) is a gene that virtually guarantees early-onset Alzheimer’s disease.
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Everyone in Whitney’s family who inherited this gene experienced cognitive decline in their early 50s or earlier, according to a WashU press release.
However, Whitney shows no signs of mental decline. WashU researchers wondered if the reason for his continued cognitive health might help protect others from disease.
In a study published in the journal Nature Medicine, researchers analyzed his genetic data and brain scans and identified “alterations in genes and proteins” that could explain how he was able to defy the possibility of persistence. mentally sharp.
Researchers also found that Whitney’s brain had little buildup of tau, a characteristic protein that signals the onset of cognitive decline.
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“These extensive studies demonstrate significant resistance to tau pathology and neurodegeneration,” study senior author Randall J. Bateman, MD, Charles F. and Joan Knight Professor Emeritus of Neurology at WashU Medicine, said in a press release.
At the urging of her cousin, Whitney first came to WashU in 2011 to participate in a study focused on families with inherited forms of Alzheimer’s disease, as many of her relatives had developed early-onset Alzheimer’s disease. At the time, he believed he didn’t have the gene.
Whitney’s mother was one of 14 children, nine of whom carried the gene for Alzheimer’s disease. Ten of them died before the age of 60. Whitney’s own brother also developed the disease and died at age 55.
“I was 61 years old at the time. I was way past the age at which I should have been diagnosed,” he said in an on-camera interview with Fox News Digital. “But they tested me and lo and behold, I had the gene. I was surprised.”
Researchers were similarly “perplexed,” Whitney recalled.
“They are tried me I repeated it three times to make sure there were no mistakes. But it’s true. I had the genes. And now, I’m 76 years old and I still don’t have any symptoms. ”
Dr. Jorge Libre Guerra, assistant professor of neurology and co-lead author of the study, similarly said it was a “huge surprise” to learn that Whitney was a carrier of the genetic mutation (officially known as an “exceptional resilience mutation carrier”).
“In fact, he was able to escape the expected course of the disease,” he said in a release.
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Now, in this latest study, WashU researchers aimed to investigate the potential reasons why Whitney did not suffer from Alzheimer’s disease.
“If we can understand the mechanisms behind this resilience, we can try to harness the same mechanisms and recreate it with targeted therapies designed to delay or prevent the onset of Alzheimer’s disease.” protective factors “That prevented Mr. Whitney from developing this disease for the benefit of others,” Libre-Guerra said.
People with PSEN2 mutations tend to “overproduce” amyloid protein. accumulate in the brain Researchers say he is in the early stages of Alzheimer’s disease.
In the second stage, symptoms of cognitive decline begin and tau protein typically builds up in the brain.
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In Whitney’s case, brain scans showed a “significant buildup” of amyloid, but an almost complete absence of tau.
One theory about how Whitney was able to escape her genetic fate stems from his time. in the navy.
Researchers analyzed Whitney’s cerebrospinal fluid and found “significantly higher than normal levels” of “heat shock” proteins, protective molecules produced by cells when under stress. exposed to high temperatures.
Whitney was exposed to high temperatures for long periods of time while working as a shipboard mechanic in the Navy for many years.
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“In the engine room of a ship, temperatures can range from 100 degrees to 110 degrees for four hours at a time,” he told Fox News Digital. “They concluded that there was probably some gene or protein that could mutate and genetically protect me from this disease.”
“We do not yet know how or whether heat shock proteins mediate that effect,” Libre-Guerra said in the release. “However, in this case they may be involved in preventing the tau protein from aggregating or misfolding, but we don’t know for sure.”
This research was supported in part by the Dominant Genetics Alzheimer Network, the National Institute on Aging, the Alzheimer’s Association, and others.
To keep his mind sharp, Whitney and his wife often do crossword puzzles and play Sudoko.
“At 76 years old, I think I’m pretty healthy,” he said. “I quite activeAnd there are very few medications to take.
If anyone is experiencing symptoms, Whitney recommends contacting the Alzheimer’s Association.
“Start your research as soon as possible. The sooner you start, the better your chances are,” he said. “Don’t give up. No one is alone anymore. There are many people waiting to help you.”
Whitney said he is optimistic about the future. Alzheimer’s disease treatment.
“When you look at the progress they’ve made over the last 14 years, it’s amazing,” he said. “It is imperative that we continue to move forward.”
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Libre-Guerra said the insights gained from Whitney’s case inspired a broader study of both humans and animals. biological secrets Behind his resistance to Alzheimer’s disease.
“We produced all the data available, not just the tissue samples,” he said. “If a researcher wants to make a request to a researcher, Additional analysisthat is something we would like to welcome. ”
Whitney said he is committed to helping advance Alzheimer’s disease research, which his wife calls his “third career.”
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“It became my calling,” he said. “When I take the test, it’s a pretty tough day, but after 14 years I’m used to it now, so I’m not worried.”
“I’ll be here as long as they need me. I’m in this situation for a long time.”
Fox News Digital has reached out to researchers for comment.
