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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A study from Sweden’s Uppsala University discovered a link between microplastics and multiple sclerosis (MS).
The research, published in the journal Environmental International, discovered that exposure to two common environmental contaminants, PFAS and PCBs, could increase the risk of the autoimmune disease.
PFAS, or per- and polyfluoroalkyl substances, known as “forever chemicals,” are used in some common household products, such as non-stick cookware, textiles and cleaning products. They have also been found in drinking water throughout the U.S., according to the U.S. Environmental Protection Agency.
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PCBs, or polychlorinated biphenyls, are toxic industrial chemicals once widely used in electrical equipment before being banned decades ago, as stated by the National Institute of Environmental Health Sciences.
The new study findings were based on blood samples of 1,800 Swedish individuals, including about 900 who had recently been diagnosed with MS, according to a university press release.
PFAS, or per- and polyfluoroalkyl substances, known as “forever chemicals,” are used in some common household products, including non-stick cookware. (iStock)
The first phase of the trial studied 14 different PFAS contaminants and three substances that appear when PCBs are broken down in the body. These were then investigated for a link to the odds of diagnosis.
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“We saw that several individual substances, such as PFOS and two hydroxylated PCBs, were linked to increased odds for MS,” lead study author Kim Kultima said in a statement. “People with the highest concentrations of PFOS and PCBs had approximately twice the odds of being diagnosed with MS, compared to those with the lowest concentrations.”
The researchers then examined the combined effects of these substances and found that the mixture was also linked to increased risk.
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Fellow researcher Aina Vaivade noted that risk assessments should consider chemical mixtures, not just individual exposures, because people are typically exposed to multiple substances at the same time.
“We saw that several individual substances, such as PFOS and two hydroxylated PCBs, were linked to increased odds for MS,” the lead study author said. (iStock)
The final phase of the study investigated the relationship between inheritance, chemical exposure and the odds of MS diagnosis, revealing that those who carry a certain gene variant actually have a reduced MS risk.
However, individuals who carried the gene and had higher exposure to PFOS — a singular type of chemical in the PFAS family — had an “unexpected” increased risk of MS.
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“This indicates that there is a complex interaction between inheritance and environmental exposure linked to the odds of MS,” Kultima said.
“We therefore think it is important to understand how environmental contaminants interact with hereditary factors, as this can provide new knowledge about the genesis of MS and could also be relevant for other diseases.”
Multiple sclerosis is a disease that leads to the breakdown of the protective covering of the nerves, according to Mayo Clinic. (iStock)
Fox News senior medical analyst Dr. Marc Siegel commented on these findings in an interview with Fox News Digital.
“MS is a complex disease that is somewhat autoimmune and somewhat post-inflammatory,” said Siegel, who was not involved in the study. “Epstein-Barr virus infection greatly increases the risk of MS.”
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“There is every reason to believe that environmental triggers play a role, including microplastics, and this important study shows a correlation, but not causation — in other words, it doesn’t prove that the microplastics caused MS.”
The study had some limitations, the researchers acknowledged, including that the chemical exposure was measured only once, at the time of blood sampling. This means it may not accurately represent participants’ long-term or past exposure levels relevant to MS development.
“There is every reason to believe that environmental triggers play a role.”
Fox News Digital reached out to several industry groups and manufacturers requesting comment on the potential link between PFAS chemicals and multiple sclerosis.
Several have issued public statements, including the American Chemistry Council, which states on its website that “manufacturers and many users of today’s PFAS are implementing a variety of practices and technologies to help minimize environmental emissions.”
In April 2024, the EPA enacted a new federal rule that sets mandatory limits on certain PFAS chemicals in drinking water, aiming to reduce exposure. The agency also aims to fund testing and treatment efforts.
A woman working out outdoors takes a sip of water from a plastic bottle. (iStock)
Multiple sclerosis is a disease that leads to the breakdown of the protective coverings that surround nerve fibers, according to Mayo Clinic.
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The immune system’s attack on these nerve sheaths can cause numbness, weakness, trouble walking and moving, vision changes and other symptoms, and can lead to permanent damage.
There is currently no cure for MS, Mayo Clinic reports, but treatment is available to manage symptoms and modify the course of the disease.
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Sitting next to a window may help people with type 2 diabetes control their insulin levels, according to new research.
The study, published in Cell Metabolism, found that exposure to natural light — even indoors next to a window — changes how the body processes glucose and uses energy.
People in Western societies spend 80% to 90% of their time under artificial lights, which are much dimmer and less dynamic than sunlight, the researchers noted. Natural daylight is a powerful cue for the body’s internal clock, also known as the circadian rhythm.
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The body’s internal clock influences many processes, including digestion, hormone release and metabolism, according to research. When it gets out of sync, it can worsen insulin resistance and blood sugar control, which are two of the main issues caused by type 2 diabetes.
Typical lighting in homes and offices is much dimmer and lacks the biological signals provided by natural daylight. (iStock)
To test the effects of daylight on blood sugar, scientists recruited 13 adults with type 2 diabetes. Each person spent two separate 4.5-day periods in a controlled office setting, according to a press release.
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In one period, they worked in front of large windows with natural daylight streaming in. In the other period, participants worked in the same room with the windows covered and were exposed only to typical indoor lighting.
Daylight isn’t a replacement for medication or traditional management strategies like diet and exercise, the researchers noted.
Everyone ate similar meals, followed the same schedule and continued their usual diabetes medications in both conditions.
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While average blood sugar levels didn’t differ drastically between the two conditions, people spent more time in the healthy glucose range when they were exposed to natural daylight — their blood sugar fluctuated less and stayed within a desirable range for a greater portion of the day.
Participants who were exposed to daylight burned more fat and fewer carbohydrates, a metabolic pattern linked to better blood sugar regulation. (iStock)
Exposure to natural light also affected metabolism. In daylight, participants burned more fat and fewer carbohydrates for energy.
Muscle biopsies and laboratory tests further showed that the genes responsible for the body’s cellular clocks were more synchronized under natural light conditions, the study revealed.
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Better alignment of these genes can improve nutrient processing and how cells respond to insulin, the researchers concluded.
Sitting near windows or spending more time outdoors could support diabetes management alongside standard treatments, researchers say. (iStock)
However, daylight isn’t a replacement for medication or traditional management strategies like diet and exercise, according to the team.
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The study did have some limitations, including that the group of patients was small. The researchers cautioned that larger studies are needed to confirm these results and determine how much natural light exposure is optimal.
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“This study also highlights the often unnoticed impact of the built environment on our health, and raises further concerns about the prevalence of office environments with poor (natural) daylight access,” the researchers noted.
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