Health

Science seeking Alzheimer’s clues from few who escape genetic fate

Published

1 week ago

March 17, 2023

Harry Miller

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.”

*****

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.

*****

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.

*****

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.

—Lauran Neergaard, The Associated Press

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Health

Funding runs out for COVID Assessment and Testing Centres – The Bay Observer – Providing a Fresh Perspective for Hamilton and Burlington

Published

6 hours ago

March 26, 2023

Harry Miller

The COVID-19 Testing and Assessment Centre and the Flu, COVID and Cold Clinic at the West 5th Campus will be closed at the end of this month. The move is in response to a sustained drop in the prevalence of COVID-19 and a decline in appointment bookings for testing, attributed to uptake in vaccinations, higher levels of immunity, and declining circulation of the virus in the community. It also reflects the fact that provincial funding for these sites ends on March 31^st. The Hamilton site was operated in conjunction with HHSC.

Says Dr. Greg Rutledge, Deputy Chief of Staff, St. Joseph’s Healthcare Hamilton. “It’s been a long time getting to this point where we see a significant drop in COVID-19 transmission.”

The hospital says Ready access to COVID-19 testing in the community through most pharmacies will meet the needs of the public and health care workers.

The move comes as the Globe and Mail published a story noting that these sites served the additional purpose of diverting many patients from Emergency Rooms. In the case of similar centres operating in the Toronto area, and estimated 14,500 potential ER visits were diverted.

According to the Globe and Mail, “Ontario Health described these clinics as a model for providing the right care to patients in the right place at the right time. They demonstrated an ability to optimize resources and reduce the burden on emergency departments. Most clinics have been set up in what are considered high-priority areas, located near public transit. All are accessible by wheelchair and able to provide translation in multiple different languages.” The article quotes Dr Sajjad Dr. Tavassoly, who works at a Brampton centre slated for closure as saying said what frustrates him most is the unmet needs of the community continue to grow, regardless of the government’s March 31 funding expiry.

More than 390,000 tests have been done at the West 5^th Testing and Assessment Centre through the past three years.

The last day of operation for both the Testing and Assessment Centre and the Flu, COVID and Cold Clinic will be Friday, March 31, 2023.

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Health

Those With Rare Diseases Need to Wait, as Usual

Published

10 hours ago

March 26, 2023

Steven Kaszab

Science has developed the ability to research, develop and create functional cures for many of our so-called “incurable diseases”, but having the ability to do something and actually doing it are two different things. Medicine has always suffered from a problem with “knowing-doing”. It is the difference between what a doctor actually does for a patient and what can be done with all that we know. Developmental breakthroughs in medicine are allowing doctors to do things they never could imagine before. Sometimes these break-thoughts don’t fit into businesses/governmental financial or regulatory systems, meaning that it can take a long time for patients to actually benefit, a time many patients may not have.

The National Institutes of Health in America invest more than $40 Billion in biomedical research each year, and the private sector twice as much. The discoveries are valued by all, but why is it so hard to use these discoveries?

Science’s ability to engineer medicines has far outpaced how these medicines are actually built, tested, and put into human beings. Artificial Intelligence has assisted the community by mapping the human genome in efforts to cure various diseases. The US Government defines rare diseases as those that affect fewer than 200,000 people in America. Some affect only a handful of people. There are over 7000 different rare diseases, with more than 30 million people in America diagnosed with one of them. That is 10% of the US population. So improving how society can find and care for these patients could have a great impact. Problem is that the health system is not flagging enough people with these diseases, while many individuals don’t even know what disease they may have, or that they indeed have a disease. A.I. steps up front to assist in the recognition, tracking, analyzing, and identifying of these patients through computer-programmed systems. Put one’s symptoms into the machine, and often voila, a point from which a doctor can begin his medical investigation and treatment. A diagnostic odyssey in each individual case.

Artificial Intelligence has a prominent place within our health system, including helping design new treatments, helping predict which treatment is better for which patient, and screening for rare diseases with suggested diagnoses to boot. Why are many with rare diseases often left out in the cold, to search on their own for a cure? Money! Simple.

Who makes medicines, and invests millions in treatments and research for diseases? Pharmaceutical Firms.
What are they but profit centers for investment bankers, massive corporations, and a financial structure centered upon the shareholder, and not the average joe? Solutions can be found, but the willingness to spend way beyond what a firm can make in profits needs to be there. Sure our DNA is constantly changing, and evolving biologically. Making a drug that cures cancer, may cure some, but certainly not all forms since each person is unique, their biology specific to that person. Many doctors realize that their methods are much like witch Doctors, forever experimenting with the specific individual’s condition.

Our Health system is tied to our financial system. That is the root of it. So long as the doctors, hospitals, and researchers are tied to profit (our financial system) the necessary technology, research, and investment will not be found for those with rare diseases. I have a disease that has no cure. My immune system is attacking the tissue in my mouth. It is sorely painful, personally transformative, and damn if you could find a doctor who is a real expert in the field. Since it is rare, the institutions of the industry will not find proper medicine for its management, let alone its cure. I live with it, and the disease manages the way I eat, what I eat, how I clean my teeth, how I sleep, and interact with my partner too. This disease can transfer to another. Great eh!

For those of you who have or know of someone who has a rare disease, all I can say is to be patient. The present-day financial and healthcare systems need to change drastically, with governmental intervention in all aspects of research, planning, and manufacturing of medicines. Out of the hands who care for themselves, and hopefully into the hands of those who care about you and those you love.

Steven Kaszab
Bradford, Ontario
skaszab@yahoo.ca

Health

The Healthcare Systems Failing Continually

Published

10 hours ago

March 26, 2023

Steven Kaszab

North Americans are aging, while the number of births within the tri-nation continent is continually falling. Birth Rates in the Caribbean have been stagnating since 2023 now showing a 7.5% decline. If national governments could dream this would be a nightmare. National union’s pension plans are at risk, as the number of workers declines but the number of pensioners continues to grow. No corporation can run properly in this fashion, much like the California Banks which recently were shut down because they spent more money than they made.

By 2046, 4.6 million Ontarians will be aged 85 and older. The province has fewer than 500 hospice beds and 4,000 hospital palliative care beds available. Ontario’s Healthcare Ministry and the many hospitals its controls are not prepared for the massive growth rate and demands of the aged. Like a car used a great deal, it breaks down. So to our aged population who do experience illness and disease. Ontario does not have enough nonprofit hospices, old age homes, long term care facilities now, and with the upswing of conservatism within Canada, the USA, and the Caribbean there will be a movement towards restraint at a time when necessary investments in these aged services and institutions present themselves. This seems to be typical for our present-day governmental administrations who lack an interest in long-term planning, with the needed revenue investments to be made for near future population demands. Migrants’ can be brought into our lands, but their training in the many fields required will certainly take a lot of time. The time our population does not have.

What is needed? With the present-day migration of nurses, medical professionals, and doctors moving from the Caribbean to the USA and Britain, the demand for trained professionals specializing in aged medicine, bereavement and grief training, hospice palliative care, Navcare to help clients find the services they need has increased at an urgent pace. Volunteers are being trained and relied upon to carry out the needed services that missing professionals should be doing. The management within many facilities has allowed friends and family to fill these positions. While community involvement is commendable, what are our taxes paying for here? Medical, hospital, and hospice centers are under the management and direction of the healthcare ministry, and these ministries are simply not doing the job they were assigned. Lack of funds, certainly lack of personnel, and lack of future financial gain have drained our healthcare ministries of their potential. Lives are at stake, and our politicians seem to be willing to fight the nurses, and healthcare professional union rather than carry out the needed governmental process. Stingy governments invest in the police, military, and economic growth of the state while their fellow citizens suffer and sometimes perish.

The healthcare systems respond by training people and sending them into areas within the system that will reduce emergency room visits, hoping to reduce hospital stays and make it possible for aging clients to stay in their homes. Such protocols are being carried out in Oxford(UK), British Columbia, and Scandinavia. Hospice technicians have been successful within their practicing regions, utilizing various professions in a team atmosphere. Many Traditional Medical Professionals within the hospital setting view these hospice professionals with prejudice and suspicion, creating further tensions within the healthcare system.

The Pandemic has shown us that our healthcare system was not prepared in any way to respond effectively, and the systems managers concentrated on revenue expenditures instead of being prepared for any eventuality. No plans on how to respond, no excess staff to rely upon. This health event has happened before, yet those we rely upon claimed innocence in their often failed reactions.

The aged within our area will also suffer a similar fate when our healthcare system and its managers fail to prepare, plan for, train, and hire needed staff. It is all about the money after all. Problem is that it is our taxes paying for these services, the managers and politicians to prepare and function for us, with us effectively. What do you do when you do not get the customer service you expect and are paying for? Is it time that our multi-system healthcare systems to be transformed?

Steven Kaszab
Bradford, Ontario
skaszab@yahoo.ca