Health
He carries the Alzheimer’s gene but never got the disease — scientists want to know why
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A Washington man appeared to be destined to develop Alzheimer’s disease — but against all genetic odds, he has eluded the common dementia for decades.
Researchers at the Washington University School of Medicine in St. Louis recently published a study focusing on Doug Whitney, 76, who lives near Seattle.
He has a rare inherited genetic mutation in the presenilin 2 (PSEN2) gene, which virtually guarantees early-onset Alzheimer’s.
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All of Whitney’s family members who inherited the gene have experienced cognitive decline starting in their early 50s or sooner, according to a WashU press release.
Whitney, however, shows no signs of mental decline. WashU researchers wondered if the reason for his continued cognitive health could help protect others against the disease.
Doug Whitney, Alzheimer’s research participant, appeared to be destined to develop Alzheimer’s disease — but against all genetic odds, he has eluded the common dementia for decades. (UWash Medicine/Megan Farmer)
In a study published in the journal Nature Medicine, the researchers analyzed his genetic data and brain scans, identifying “changes in genes and proteins” that could explain how he has defied the odds to remain mentally sharp.
The researchers also discovered that Whitney’s brain had virtually no buildup of tau, the hallmark protein that signals the onset of cognitive decline.
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“These extensive studies indicate a remarkable resistance to tau pathology and neurodegeneration,” said senior study author Randall J. Bateman, M.D., the Charles F. and Joanne Knight Distinguished Professor of Neurology at WashU Medicine, in the press release.
Urged by his cousin, Whitney first came to WashU in 2011 to participate in a study focused on families with inherited forms of Alzheimer’s, as many of his relatives had developed early-onset disease. At the time, he believed he did not have the gene.
“He actually was able to escape the expected course of the disease.”
Whitney’s mother was one of 14 children, nine of whom had the Alzheimer’s gene. Ten of them died before they were 60. Whitney’s own brother developed the disease before dying at age 55.
“I was 61 at the time — well past the age where it should have onset,” he told Fox News Digital during an on-camera interview. “But they tested me, and lo and behold, I did have the gene. I was amazed.”
In a study published in the journal Nature Medicine, the researchers analyzed Whitney’s genetic data and brain scans. (UWash Medicine/Megan Farmer)
The researchers were just as “confounded,” Whitney recalled.
“They tested me three times to make sure that there wasn’t some slip-up. But it’s true. I had the gene. And now I’m 76 years old and still haven’t had any symptoms.”
Cognitive clues
Jorge Llibre-Guerra, M.D., an assistant professor of neurology and co-first author of the study, echoed that it was a “big surprise” to learn that Whitney was a carrier of the genetic mutation — officially known as an “exceptional resilience mutation carrier.”
“He actually was able to escape the expected course of the disease,” he said in the release.
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Now, in this most recent study, the WashU researchers aimed to explore potential reasons for Whitney’s absence of Alzheimer’s.
“If we are able to uncover the mechanism behind this resilience, we could try to replicate it with a targeted therapy designed to delay or prevent the onset of Alzheimer’s, leveraging the same protective factors that have kept Mr. Whitney from developing this disease to benefit others,” said Llibre-Guerra.
Doug and Ione Whitney often work on puzzles together to help maintain mental sharpness. (UWash Medicine/Megan Farmer)
Those who have the PSEN2 mutation tend to have an “over-production” of amyloid protein, which builds up in the brain during the first stage of Alzheimer’s, according to the researchers.
In the second stage, as symptoms of cognitive decline begin, there is typically a buildup of tau protein in the brain.
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In Whitney’s case, brain scans showed a “significant accumulation” of amyloid, but almost a complete absence of tau.
One theory for how Whitney may have escaped his genetic fate stems from his time in the Navy.
The researchers discovered that Whitney’s brain (not pictured) had virtually no buildup of tau, the hallmark protein that signals the onset of cognitive decline. (AP Photo/Evan Vucci, File)
When the researchers analyzed Whitney’s cerebrospinal fluid, they found a “a significantly higher-than-normal level” of “heat shock” proteins, protective molecules that cells produce when they’re under stress, including high heat exposure.
During his many years of working as a shipboard mechanic in the Navy, Whitney was exposed to high temperatures for extended periods of time.
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“In the engine room of ships, the temperatures … would range from 100 to 110 degrees, for four hours at a time,” he told Fox News Digital. “They concluded that possibly there was some gene or protein that could mutate and protect me genetically from the disease.”
“We don’t yet understand how or if heat shock proteins may be mediating the effect,” Llibre-Guerra noted in the release. “However, in this case, they may be involved in preventing aggregation and misfolding of tau proteins, but we do not know for sure.”
“They tested me three times to make sure that there wasn’t some slip-up. But it’s true. I had the gene. And now I’m 76 years old and still haven’t had any symptoms,” Whitney said. (REUTERS/Brian Snyder/File photo)
The research was supported in part by the Dominantly Inherited Alzheimer Network, the National Institute on Aging and the Alzheimer’s Association, among others.
‘It’s my calling’
To help him stay sharp, Whitney often does crossword puzzles and sudoko along with his wife.
“I think I’m pretty healthy at 76,” he said. “I’m pretty active, and I hardly have any medications to take.”
For those who are experiencing symptoms, Whitney recommends contacting the Alzheimer’s Association.
“Get into research as soon as possible — the earlier you get in, the better chance you have,” he said. “Don’t give up. Nobody’s alone out there anymore. There are lots of people waiting to help you.”
“Looking at the advances they’ve made over the last 14 years — it’s amazing,” Whitney said. “It’s imperative that we keep going.” (iStock)
Whitney said he is optimistic about the future of Alzheimer’s treatment.
“Looking at the advances they’ve made over the last 14 years — it’s amazing,” he said. “It’s imperative that we keep going.”
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Llibre-Guerra said he’s hopeful that the insights gleaned from Whitney’s case will spark broader studies — in both people and animals — aimed at uncovering the biological secrets behind his resistance to Alzheimer’s.
“As long as they need me, I’ll be here. I’m in it for the long haul.”
“We have made all of the data we have available, as well as the tissue samples,” he said. “If researchers want to request those to do additional analysis, that’s something we would welcome.”
Whitney said he is committed to helping advance Alzheimer’s research, which his wife refers to as his “third career.”
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“It’s become my calling,” he said. “When we go for testing, it’s a pretty rigorous day, but after 14 years, I’m used to it now, so that’s not a concern.”
“As long as they need me, I’ll be here. I’m in it for the long haul.”
Fox News Digital reached out to the researchers for comment.
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The American Cancer Society (ACS) has updated its guidelines for colorectal cancer screening.
The organization released the update in its flagship journal on Wednesday, noting that the new recommendations “re-affirm” that adults at average risk should be screened for colorectal cancer at age 45 and continue through 75, for those with a life expectancy greater than 10 years.
In addition to the standard colonoscopy, the ACS also recommends that patients receive a blood-based screening test in a doctor’s office, which is designed to detect tumor DNA in the blood.
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The ACS also suggested an at-home screening option that looks for hidden blood and molecular markers in stool samples.
These new guidelines reflect recent advancements in disease detection, as well as a “critical shift in public health strategy to expand screening options and lower barriers to access,” the ACS stated in a press release.
The ACS recommends blood-based testing and at-home stool sampling as options for colorectal cancer screening. (iStock)
Dr. Robert Smith, senior vice president of early cancer detection science at the American Cancer Society and senior author of the report, wrote in a statement that colorectal cancer should be emphasized as a “highly preventable disease as much as a treatable one.”
“By offering more screening tools in our guideline update, more eligible adults will be able to participate in lifesaving colorectal cancer testing, helping to close the screening gap and catch more cancers at an earlier, treatable stage,” he added.
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According to the ACS, colorectal screening “dramatically improves survival,” as studies show early-stage detection yields a five-year survival rate of more than 90% in the U.S.
About one in three American adults are eligible for colorectal cancer screening but have not been tested, although ACS research marks colorectal cancer as the top cancer killer of adults under 50.
Colorectal cancer is the top cancer killer of adults under the age of 50, according to the ACS. (iStock)
People at a high risk of colorectal cancer may need to begin screening before age 45 or be screened more often, the ACS added. Those over 85 years old should no longer be screened for colorectal cancer, per the guidelines.
Dr. William Dahut, chief scientific officer at the ACS, commented that “no matter which test you choose, what’s most important is to get screened, and that includes underserved, rural and minority populations.”
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These guideline changes follow a surge in colorectal cancer diagnoses in younger individuals. Recent ACS research revealed a 50% relative increase in diagnoses in adults aged 45 to 49 from 2021 to 2022.
Dr. Aparna Parikh, medical director of the Center for Young Adult Colorectal Cancer at the Mass General Cancer Center, who is not affiliated with the ACS, shared that experts don’t “entirely understand why” cases are on the rise.
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“But it seems to be an interplay of a person’s risk factors, overall makeup and early exposures,” she previously told Fox News Digital. “[Those] include dietary exposures, environmental exposures and possible antibiotic exposures, as well as lifestyle factors in the right host.”
Changes in bowel habits are the primary red flag that should raise the suspicion of colorectal cancer. (iStock)
Another recent ACS study found that drinking heavily and consistently over an adult’s lifetime could lead to a higher risk of colorectal cancer.
Other known risk factors include family history, obesity, smoking, a diet high in red and processed meats, inflammatory bowel disease, and a personal history or family history of polyps.
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While there may be no symptoms of colorectal cancer before diagnosis, especially in the early stages, certain symptoms should not be overlooked, experts say.
Dr. Eitan Friedman, PhD, an oncologist and founder of The Suzanne Levy-Gertner Oncogenetics Unit at the Sheba Medical Center in Israel, confirmed to Fox News Digital that changes in bowel habits are the primary red flag that should raise the suspicion of colorectal cancer.
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Other symptoms include fatigue as a result of anemia, stomach pain or abdominal discomfort, rectal bleeding or blood in the stool, weakness and unexplained weight loss.
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The sudden death of Kyle Busch has drawn attention to a rare but devastating medical progression: when pneumonia escalates into fatal sepsis.
An ER doctor spoke with Fox News Digital about how sepsis can trigger a rapid health decline.
“Sepsis is actually not a specific disease or diagnosis, but rather the syndrome that occurs when the body has certain abnormal findings and a presumed infection,” said Dr. Kenneth J. Perry, a South Carolina-based emergency medicine physician.
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The markers of sepsis include elevated white blood cell counts, a high or low temperature, and elevated heart and respiratory rates, according to Perry. Because of this, a patient with pneumonia is often already technically septic by definition.
In the wake of Kyle Busch’s sudden passing, there is a focus on the rapid decline from pneumonia to fatal sepsis. (Getty; iStock)
While many people assume a worsening infection means bacteria are multiplying uncontrollably, it often has more to do with the body’s internal environment.
“It is often not the bacteria itself that is causing the specific decline,” Perry said. “In most cases, it is a cascade of inflammatory processes that are set in motion by the infection.”
When this inflammation spirals out of control, the body moves from having a manageable infection into severe sepsis. This is when otherwise healthy people can rapidly deteriorate.
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“The concerning thing that can happen with any individual … is that sepsis can then lead to low blood pressure, worsening vital signs and organ damage,” Perry said.
“As multiple organs fail, it becomes very difficult for the medical team to treat and can sometimes lead ultimately to death.”
“The medical evaluation provided to the Busch Family concluded that severe pneumonia progressed into sepsis, resulting in rapid and overwhelming associated complications,” the family shared in a statement. (James Gilbert/Getty Images)
It is very unlikely to have pneumonia and not have any symptoms, according to Perry. Early signs can mimic a severe flu, including fevers, chills, a productive cough, and chest or back pain in cases where the lung is infected.
When sepsis begins to take hold, time becomes the most critical factor. “We have known for a number of years that early antibiotic therapy is beneficial in the treatment of sepsis,” Perry said.
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If you or a loved one are managing an infection at home, the doctor says the following red flags mean you should bypass the clinic and head straight to the emergency room.
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- Shortness of breath or difficulty breathing
- A racing heart rate or fever that continues to worsen even after starting treatment
- Severe chest pain associated with a productive cough
The slide into sepsis is, in most cases, a cascade of inflammatory processes that are set in motion by the infection, the doctor said. (iStock)
While cases like Busch’s are tragic, Perry stressed that this shouldn’t cause widespread panic. Most patients with pneumonia do very well with standard oral antibiotics.
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The NASCAR star’s rapid decline underscores the importance of medical vigilance and “having a primary care physician with whom you have a good relationship,” according to the ER doctor.
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“Monitoring symptoms while having easy access to primary care is a very beneficial and appropriate plan for most patients,” he added.
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