A unique quirk of DNA protected a Colombian man from developing a hereditary form of dementia for two decades. Researchers, who studied his brain after he died, have discovered that this type of dementia may go way back in the village where he resided. They believe that looking more closely at him and another person who was found to be resistant to this type of dementia may open the door to new treatments for the disease!
A Unique Genetic Mutation Is Common for Generations
In the eighteenth century, a man believed to be from Spain brought a mysterious disease to the Antioquia region in Colombia. He had a unique genetic mutation — not present in previous generations — that would cause sudden memory loss at around 44 years of age and early Alzheimer’s at around 49. Today, about 6,000 descendants of this man are said to live in Antioquia, and 1,200 of them carry that mutation, known as E280A or Paisa. Early dementia is known to be quite common in this part of the world.
Recently, a team of scientists presented an exceptional case of a man who carried the same mutation as the others but did not suffer cognitive impairment until the age of 67. The genetic makeup of the man indicated that he would almost certainly get Alzheimer’s disease by the age of 50. But he escaped that fate. He lived into his 70s before experiencing any issues with thinking and memory skills and avoided the worst of the condition.
His name was not released, so he is referred to in research as patient J, but we do know that he was a mechanic and a father of two. He began suffering from Alzheimer’s when he was 72 years old, more than two decades later than expected. How he kept dementia at bay for 20-plus years is a mystery that scientists are working to uncover!
Patient J Was the Second Patient to Keep Dementia at Bay for Decades
Patient J was the second instance where someone with a unique quirk of DNA kept dementia from affecting their life for decades. In 2015, another person in Colombia, Aliria Rosa Piedrahita de Villegas, was also seemingly protected from the effects of Alzheimer’s, though her brain had already developed a key characteristic of the disease. In a study published that year also in the journal Nature Medicine, it was noted that similar to patient J, until her 70s, Aliria hadn’t developed any mental problems at all. Later in life, she was diagnosed with mild cognitive impairment, where her thinking skills had dulled, but not to the point of a diagnosis. In other words, no Alzheimer’s!
How Could This Happen?
In the brains of Alzheimer’s patients, it is common to find plaques and tangles. Plaques are a sticky buildup of beta-amyloid, a protein that clumps between neurons, and tangles are made up of tau, another protein that accumulates inside brain cells. In the case of both patients, researchers ran into a surprise. In the brain of patient J, there were plaques, but hardly any tangles. The researchers believe this resistance to early dementia was due to some type of protective mutation!
Tests on Aliria’s brain showed high levels of amyloid beta plaques, but she didn’t present any of the symptoms associated with Alzheimer’s, such as memory loss and behavioral issues. Although her brain was clogged with the characteristic amyloid plaques of Alzheimer’s, it was relatively free of the tangles of tau that are also associated with the disease, similar to patient J. She also suffered little neurodegeneration, the death of the brain’s nerve cells. Scientists discovered a genetic mutation that protected her, and nicknamed it Christchurch, whereas the genetic mutation found in patient J’s brain was called COLOBOS, after Colombia and Boston where much of the research is taking place.
Researchers noted that the mutations in the two cases possibly have common cellular effects, but the big difference is in the expression of each protein.
Researchers Have Been Studying Dementia in Colombia for 30 Years!
Dr. Francisco Lopera, the neurologist who began analyzing early dementia cases in Colombia more than 30 years ago, has studied more than 6,000 members of 25 families, concentrated in Yarumal, Colombia, in the Antioquia region. Many of those people carry a tragically unlucky mutation that is rare, with effects that are aggressive and predictable. As mentioned, people carrying this gene begin to experience the first inklings of cognitive problems around age 44, and by 49, they have full-blown dementia. They typically die in their 60s. With so many instances of this type of dementia and two patients successfully staving it off, Lopera believes that “the secret against the disease” may be hidden there.
Dr. Lopera met patient J and says that he lived normally until the age of 67. What the two patients teach us is “that disease and cure live together in nature. We just have to read nature and imitate it. If we succeed, we will be able to delay Alzheimer’s by 20 or 30 years,” says Lopera. The Colombian neurologist points to two possible avenues for treatment: developing molecules that mimic the effect of these protective mutations and modifying DNA through gene therapies introduced into the brain by means of a virus.
Colombian neuropsychologist Yakeel Quiroz, from the Massachusetts General Hospital in the United States, co-led the research on patient J. She is also optimistic about the study. “Our findings with this exceptional case open new doors for the development of Alzheimer’s therapies,” she says. Her colleague Joseph Arboleda, from Harvard Medical School, founded the company Epoch Biotech, which is trying to develop treatments inspired by Alzheimer’s-resistant patients. “Current drugs offer very limited benefits. Our patients were protected for more than 20 years and the hope is that new therapies will do the same,” he notes.
Researchers Are Hopeful
The fight against Alzheimer’s disease has so far focused — with little or no success — on trying to reduce the accumulation of plaques and tangles in the brain that cause the death of neurons. Understanding the possible biochemical pathways that produce protection opens up new approaches for drug development, the researchers said. The researchers hope that the findings could shed light on new ways of treating — and possibly preventing — the degenerative brain disease.
Planning for a Loved One with Dementia
Here at the Farr Law Firm, we give our clients the peace of mind that comes from Long-Term Care Planning and protecting your assets and your legacy, all while preserving your dignity, quality of life, and financial security.
Among other services, we offer peace of mind through our four levels of lifetime protection planning:
Level 1 — Incapacity Planning is about protecting your assets from lifetime probate, also known as guardianship and conservatorship. Everyone over the age of 18 should have this type of planning in place.
Level 2 — Revocable Living Trust Estate Planning is about protecting your assets from lifetime probate and after-death probate, keeping in mind that using only a Last Will and Testament to transfer your assets at death forces your estate through the nightmare of after-death probate. All individuals and families who have children and/or financial assets should strongly consider Level 2 Planning.
Level 3 — Living Trust Plus® Asset Protection Planning provides protection from probate, lawsuits, home care, and assisted living expenses by allowing access to Veterans Aid and Attendance benefits, and nursing home expenses by allowing access to Medicaid. This type of planning is done by clients who are typically retired and either still healthy or have recently been diagnosed with (or have a family history of) dementia or some other illness that is likely to result in the future need for long-term care.
Level 4 – Life Care Planning, Medicaid Asset Protection, and Veterans Asset Protection provides comprehensive planning and filing services, often at times of crisis, though this type of planning can be done anytime someone is beyond the first step of the Elder Care Continuum aka Aging Continuum.
If you have not done the appropriate level of planning, or had your planning documents reviewed in the past several years, please call us today:
Northern Virginia Elder Law Attorney: 703-691-1888
Fredericksburg, VA Elder Law Attorney: 540-479-1435
Rockville, MD Elder Law Attorney: 301-519-8041
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About Evan H Farr, CELA, CAP
