Doug Whitney inherited the same gene mutation that gave Alzheimer’s disease to his mother, brother and generations of other relatives by the unusually young age of 50.
Yet he’s a healthy 73, his mind still sharp. Somehow, the Washington man escaped his genetic fate.
So did a woman in Colombia who dodged her own family’s similar Alzheimer’s destiny for nearly three decades.
To scientists, these rare “escapees” didn’t just get lucky. They offer an unprecedented opportunity to learn how the body may naturally resist Alzheimer’s.
“It’s unique individuals oftentimes that really provide us with breakthroughs,” said Dr. Eric McDade of Washington University in St. Louis, where Whitney’s DNA is being scoured for answers.
The hope: If researchers could uncover and mimic whatever protects these escapees, they might develop better treatments — even preventive therapies — not only for families plagued by inherited Alzheimer’s but for everyone.
“We are just learning about this approach to the disease,” said neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, who helped study the Colombian woman. “One person can actually change the world — as in her case, how much we have learned from her.”
Quiroz’s team has a pretty good idea what protected Aliria Piedrahita de Villegas — an additional genetic oddity that apparently countered the damage from her family Alzheimer’s mutation. But testing showed Whitney doesn’t have that protective factor so something else must be shielding his brain.
Now scientists are on the lookout for even more Alzheimer’s escapees — people who may have simply assumed they didn’t inherit their family’s mutation because they’re healthy long after the age their loved ones always get sick.
“They just think it’s kind of luck of the draw and it may in fact be that they’re resilient,” said McDade, a researcher with a Washington University network that tracks about 600 members of multiple affected families — including Whitney, the escapee.
“I guess that made me pretty special. And they started poking and prodding and doing extra testing on me,” the Port Orchard, Washington, man said. “I told them, you know, I’m here for whatever you need.”
Answers can’t come quickly enough for Whitney’s son Brian, who also inherited the devastating family gene. He’s reached the fateful age of 50 without symptoms but knows that’s no guarantee.
“I liken my genetics to being a murder mystery,” said Brian Whitney, who volunteers for Washington University studies that include testing an experimental preventive drug. “Our literal bodies of evidence are what they need to crack the case.”
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More than 6 million Americans, and an estimated 55 million people worldwide, have Alzheimer’s. Simply getting older is the main risk — it’s usually a disease of people over age 65.
Less than 1% of Alzheimer’s is caused by inheriting a single copy of a particular mutated gene. Children of an affected parent have a 50-50 chance of inheriting the family Alzheimer’s gene. If they do, they’re almost guaranteed to get sick at about the same age as their parent did.
That near certainty allows scientists to study these families and learn critical information about how Alzheimer’s forms. It’s now clear that silent changes occur in the brain at least two decades before the first symptoms — a potential window to intervene. Among the culprits, sticky amyloid starts building up, followed by neuron-killing tau tangles.
What happens instead in the brains of the resilient?
“That’s why I’m here,” said Doug Whitney, who for years has given samples of blood and spinal fluid and undergone brain scans and cognitive exams, in the hunt for clues. “It’s so important that people in my situation come forward.”
Whitney’s grandparents had 14 children and 10 of them developed early-onset Alzheimer’s. The first red flag for his mother: Thanksgiving 1971, when she forgot the pumpkin pie recipe she’d always made from memory.
“Five years later she was gone,”’ Whitney said.
Back then doctors didn’t know much about Alzheimer’s. It wasn’t until the 1990s that separate research teams proved three different genes, when mutated, can each cause this uniquely inherited form of the disease. They each speed abnormal amyloid buildup.
Doug Whitney’s family could only watch and worry as his 50th birthday came and went. His older brother had started showing symptoms at 48. (Some other siblings later were tested and didn’t inherit the gene although two still don’t know.)
“We went through about 10 years when the kids would call home their first question was, ‘How’s Dad?’” his wife Ione Whitney recalled. “By the time he turned 60 we kind of went, wow, we beat the coin toss.”
But not the way he’d hoped. In 2010, urged by a cousin, Whitney joined the St. Louis research. He also agreed to a genetic test he’d expected to provide final reassurance that his children wouldn’t face the same worry — only to learn he’d inherited the family mutation after all.
“He kind of got leveled by that result,” Brian Whitney said.
While Brian inherited the family gene, his sister Karen didn’t — but she, too, is part of the same study, in the healthy comparison group.
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U.S. researchers aren’t the only ones on the trail of answers. In South America, scientists are tracking a huge extended family in Colombia that shares a similar Alzheimer’s-causing variant. Carriers of this mutated gene start showing memory problems in their early 40s.
In contrast, one family member — Piedrahita de Villegas — was deemed to have “extreme resistance,” with no cognitive symptoms until her 70s. Researchers flew the woman to Quiroz’s lab in Boston for brain scans. And when she died at 77 of melanoma with only mild signs of dementia, her brain was donated to Colombia’s University of Antioquia for closer examination.
Her brain was jampacked with Alzheimer’s trademark amyloid plaques. But researchers found very little tau — and weirdly, it wasn’t in the brain’s memory hub but in a very different region.
Clearly something affected how tau formed and where. “The thing that we don’t know for sure is why,” Quiroz said.
DNA offered a suspect: An ultra-rare mutation on an unrelated gene.
That APOE gene comes in different varieties, including a version notorious for raising people’s risk of traditional old-age Alzheimer’s and another that’s linked to lower risk. Normally the APOE3 version that Piedrahita de Villegas carried makes no difference for dementia.
But remarkably, both copies of her APOE3 gene were altered by the rare “Christchurch” mutation — and researchers think that blocked toxic tau.
To start proving it, Quiroz’s team used preserved cells from Piedrahita de Villegas and another Colombian patient to grow some cerebral tissue in lab dishes. Cells given the Christchurch mutation developed less tau.
“We still have more work to do but we’re getting closer to understanding the mechanism,” Quiroz said.
That research already has implications for a field that’s long considered fighting amyloid the key step to treating Alzheimer’s.
Instead, maybe “we just need to block what’s downstream of it,” said Dr. Richard Hodes, director of the National Institute on Aging.
And since Whitney, the Washington man, doesn’t have that extra mutation, “there may be multiple pathways for escape,” Hodes added.
In St. Louis, researchers are checking out another clue: Maybe something special about Whitney’s immune system is protecting his brain.
The findings also are fueling a search for more escapees to compare. The Washington University team recently began studying one who’s unrelated to Whitney. In Colombia, Quiroz said researchers are looking into a few more possible escapees.
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That search for answers isn’t just work for scientists. Whitney’s son Brian estimates he spends about 25 days each year undergoing different health checks and procedures, many of them far from his Manson, Washington, home, as part of Alzheimer’s research.
That includes every two weeks, getting hooked up to a pump that administers an experimental amyloid-fighting drug. He also gets regular brain scans to check for side effects.
Living with the uncertainty is tough, and he sometimes has nightmares about Alzheimer’s. He tries to follow what he now knows was his parents’ mantra: “Make the best of life till 50 and anything after that is a bonus.”
He makes lots of time to go fishing and camping with daughter Emily, now 12, who hasn’t yet been told about the family gene. He hopes there will be some answers by the time she’s an adult and can consider testing.
“When I have a bad day and decide maybe I should not continue (the research), I think of her and then that all vanishes,” he said.
HALIFAX – The Nova Scotia government says it could be months before it reveals how many people are on the wait-list for a family doctor.
The head of the province’s health authority told reporters Wednesday that the government won’t release updated data until the 160,000 people who were on the wait-list in June are contacted to verify whether they still need primary care.
Karen Oldfield said Nova Scotia Health is working on validating the primary care wait-list data before posting new numbers, and that work may take a matter of months. The most recent public wait-list figures are from June 1, when 160,234 people, or about 16 per cent of the population, were on it.
“It’s going to take time to make 160,000 calls,” Oldfield said. “We are not talking weeks, we are talking months.”
The interim CEO and president of Nova Scotia Health said people on the list are being asked where they live, whether they still need a family doctor, and to give an update on their health.
A spokesperson with the province’s Health Department says the government and its health authority are “working hard” to turn the wait-list registry into a useful tool, adding that the data will be shared once it is validated.
Nova Scotia’s NDP are calling on Premier Tim Houston to immediately release statistics on how many people are looking for a family doctor. On Tuesday, the NDP introduced a bill that would require the health minister to make the number public every month.
“It is unacceptable for the list to be more than three months out of date,” NDP Leader Claudia Chender said Tuesday.
Chender said releasing this data regularly is vital so Nova Scotians can track the government’s progress on its main 2021 campaign promise: fixing health care.
The number of people in need of a family doctor has more than doubled between the 2021 summer election campaign and June 2024. Since September 2021 about 300 doctors have been added to the provincial health system, the Health Department said.
“We’ll know if Tim Houston is keeping his 2021 election promise to fix health care when Nova Scotians are attached to primary care,” Chender said.
This report by The Canadian Press was first published Sept. 11, 2024.
ST. JOHN’S, N.L. – Newfoundland and Labrador‘s chief medical officer is monitoring the rise of whooping cough infections across the province as cases of the highly contagious disease continue to grow across Canada.
Dr. Janice Fitzgerald says that so far this year, the province has recorded 230 confirmed cases of the vaccine-preventable respiratory tract infection, also known as pertussis.
Late last month, Quebec reported more than 11,000 cases during the same time period, while Ontario counted 470 cases, well above the five-year average of 98. In Quebec, the majority of patients are between the ages of 10 and 14.
Meanwhile, New Brunswick has declared a whooping cough outbreak across the province. A total of 141 cases were reported by last month, exceeding the five-year average of 34.
The disease can lead to severe complications among vulnerable populations including infants, who are at the highest risk of suffering from complications like pneumonia and seizures. Symptoms may start with a runny nose, mild fever and cough, then progress to severe coughing accompanied by a distinctive “whooping” sound during inhalation.
“The public, especially pregnant people and those in close contact with infants, are encouraged to be aware of symptoms related to pertussis and to ensure vaccinations are up to date,” Newfoundland and Labrador’s Health Department said in a statement.
Whooping cough can be treated with antibiotics, but vaccination is the most effective way to control the spread of the disease. As a result, the province has expanded immunization efforts this school year. While booster doses are already offered in Grade 9, the vaccine is now being offered to Grade 8 students as well.
Public health officials say whooping cough is a cyclical disease that increases every two to five or six years.
Meanwhile, New Brunswick’s acting chief medical officer of health expects the current case count to get worse before tapering off.
A rise in whooping cough cases has also been reported in the United States and elsewhere. The Pan American Health Organization issued an alert in July encouraging countries to ramp up their surveillance and vaccination coverage.
This report by The Canadian Press was first published Sept. 10, 2024.
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