Columbian Woman Continues to Offer Clues to Escaping the Genetic Fate of Alzheimer’s

Alzheimer's researchAs an elder care law firm, we strive twice a week to bring our readers timely information on developing topics in the field of Alzheimer’s and other types of dementia.

In the past, we wrote about Aliria Rosa Piedrahita de Villegas, a Columbian woman who was remarkably protected from the effects of Alzheimer’s, despite the fact that she was genetically predisposed to an early-onset variant of the disease that afflicts a large percentage of her family and despite the fact that her brain had already developed a key characteristic of the disease. According to researchers, Aliria de Villegas, based on the scans of her brain, should have developed Alzheimer’s symptoms in her 40s, but didn’t have any symptoms at all until she was in her 70s, when she was diagnosed with mild cognitive impairment. How can this be? New details were uncovered this week as scientists continue to follow de Villegas and members of her extended family.

The new research shows that what apparently helped Aliria de Villegas stave off the disease for so long was an incredibly rare gene pair containing two copies of an unrelated gene called the “Christchurch variant,” named after the city in New Zealand where it was first discovered. Since our previous article was written, Aliria de Villegas passed away in 2020 from metastatic melanoma at the age of 77; however, until her death from cancer, de Villegas surprisingly never developed any symptoms of Alzheimer’s disease despite her brain having all the characteristics of people who suffer from the disease.

Dr. Yakeel Quiroz, neurologist at Massachusetts General Hospital and professor at Harvard Medical School, along with other neurologists, are now working on developing an Alzheimer’s treatment that can replicate the protective actions and effects of the Christchurch variant. “Aliria gives me a lot of hope. Delaying onset for 30 years is very ambitious, but anything we can do to delay cognitive decline would get us closer to our goal, and it is something that Aliria showed is possible,” Quiroz says.

Researchers are Testing Other Members of de Villegas Extended Family

Children of an affected parent have a 50-50 chance of inheriting the early-onset Alzheimer’s gene. If they do, they’re almost guaranteed to develop Alzheimer’s symptoms at about the same age as their parent did. Do those with two copies of the gene typically have the same ability to stave off the disease as de Villegas did?

According to the Alzheimer’s Association, members of de Villegas’ familial group develop Alzheimer’s due to what is known as “deterministic genes.” Although having deterministic genes is extremely rare — accounting for only 1% or less of all Alzheimer’s cases worldwide —  de Villegas provided important insights into how Alzheimer’s develops and in her case, doesn’t develop, in some people.

For example, when diseases such as Alzheimer’s tend to run in families, either hereditary factors or environmental factors — or both — may play a role. In recent years, researchers have increased their focus on studying Alzheimer’s in its earliest stages in an effort to stop the disease before it is too late to treat. According to Dr. Quiroz, “(o)ur work with this family … allows us to track those earliest changes associated with Alzheimer’s disease and identify how those changes happen over time. This will help us identify …  who may be at risk and who may be more resistant to Alzheimer’s, as well as learn which biomarkers are better predictors of disease progression.”

Using the Findings to Pave the Way for New Treatments

As mentioned, researchers are testing members of de Villegas’ extended family to see how many others have the same gene combination as she did, and whether they too are staving off Alzheimer’s disease. Quiroz and his team tested more than 1,000 extended family members, and identified 27 others who carry the Christchurch variant.

While slowing or stopping Alzheimer’s for all people is the goal, Quiroz also has a more personal motivation for her work. Having met and studied children, teens and young adults from the extended Colombian family with only one copy of the gene (and therefore no protective Christchurch variant), Quiroz feels she is in a race against time. “For me, the challenge is to find a treatment for them before they make it to their 40s and develop Alzheimer’s,” she says.

When Quiroz refers to de Villegas, she says “(o)ne person can actually change the world — as in her case, how much we have learned from her.”

More is Now Known About the Christchurch Variant’s Protective Role

The changes in the brain that typically occur prior to Alzheimer’s symptoms, sometimes by at least two decades, include the buildup of a sticky protein called amyloid that, once it reaches certain levels, appears to trigger tangles of another protein, called tau, that kill brain cells. The Christchurch variant described in this article has been found to impede this tau transition. Scientists are now taking this knowledge and studying whether the rare variant affects the more common old-age type of Alzheimer’s, as well. The hope is that researchers will be able to uncover and mimic how the protection works, and use it to develop better therapies and treatments, not only for families plagued by inherited Alzheimer’s but for everyone.

A lot is Still Unknown About Early-Onset Dementia

A growing number of people in midlife are being diagnosed with early-onset dementia, which is an atypical form of the degenerative disease. It is important that people whose families have a history of dementia, especially early-onset dementia, consider doing Medicaid asset protection planning with an experienced elder care Law Firm such as the Farr Law Firm as early as possible after memory problems start to appear. Similar to other forms of dementia, early-onset dementia is currently incurable. These conditions typically show up in people in their 50s and 60s, sometimes even earlier and sometimes a bit later. No one knows whether these early-onset conditions are becoming more common or doctors have just gotten better at diagnosing them. The National Institute on Aging suspects that these early-onset dementia cases represent about 5% of the total number of Alzheimer’s patients. Hopefully research such as that described in this article will help provide more insights into staving off this type of Alzheimer’s and other forms of dementia.

If You Have a Family History of Dementia, Planning Early is Critical

If you have a family history of relatives developing Alzheimer’s or other forms of dementia, especially any history of early-onset dementia, you face special legal and financial needs. As an elder care planning law firm, the Farr Law Firm is dedicated to easing your family’s financial and emotional burden if you develop dementia. We can help you protect your lifetime’s worth of assets so you and your family don’t have to go broke paying for long-term care expenses. Protecting your assets will allow your family to help you maintain your comfort, dignity, and quality of life by ensuring you eligibility for critical government benefits such as Medicaid and Veterans Aid and Attendance. If you have been diagnosed with any type of cognitive impairment, please call us as soon as possible to make an appointment:

Elder Law Attorney Fairfax: 703-691-1888
Elder Care Attorney Fredericksburg: 540-479-1435
Alzheimer’s Planning Rockville: 301-519-8041
Medicaid Asset Protection Attorney DC: 202-587-2797

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About Evan H Farr, CELA, CAP

Evan H. Farr is a 4-time Best-Selling author in the field of Elder Law and Estate Planning. In addition to being one of approximately 500 Certified Elder Law Attorneys in the Country, Evan is one of approximately 100 members of the Council of Advanced Practitioners of the National Academy of Elder Law Attorneys and is a Charter Member of the Academy of Special Needs Planners.