Aliria Rosa Piedrahita de Villegas, a Colombian woman with two copies of the Christchurch variant, developed Alzheimer's disease in her 70s, much later than expected.
People carrying a single copy of the Christchurch variant experience cognitive decline five years later than their relatives without it.
Researchers discovered a rare genetic trait, called the Christchurch variant, in some members of a Colombian family that delays Alzheimer's disease onset by five years.
Symptoms were delayed by five years and dementia was delayed by four years for those who developed cognitive impairment.
Researchers have discovered a rare genetic trait, called the Christchurch variant, in some members of a family that delays the onset of Alzheimer's disease. The findings come from studies conducted at Mass General Brigham and the University of Antioquia in Medellin, Colombia. The researchers found that people carrying this genetic oddity experience cognitive decline and dementia later than those without it.
In 2019, a Colombian woman named Aliria Rosa Piedrahita de Villegas was identified as having two copies of the Christchurch variant. She developed Alzheimer's disease in her 70s, much later than expected due to her family history of early-onset Alzheimer's. Her discovery sparked further investigation into this genetic trait.
The researchers studied 27 members of the extended Colombian family and found that those carrying a single copy of the Christchurch variant experienced cognitive decline five years later than their relatives without it. Among those who developed cognitive impairment, symptoms were delayed by five years, and dementia was delayed by four years.
The scientists believe that this discovery could lead to the development of an Alzheimer's drug or medication that emulates the effects of the Christchurch variant. The findings were published in The New England Journal of Medicine.
In 2019, researchers discovered a Colombian woman carried a rare version of the APOE gene, called the Christchurch variant, which offered protection against an aggressive early form of Alzheimer’s disease.
The woman had two copies of the Christchurch variant; 27 members of her extended family carried the genetic risk for Alzheimer’s along with a single copy of Christchurch.
Cognitive decline in this family was delayed by about five years, suggesting a drug that emulates the gene could have similar effects.
A man with one copy of the Christchurch variant showed limited tangles of a protein related to Alzheimer’s and developed mild dementia years later than expected.
Researchers found 26 other people with one copy of the Christchurch variant; among those who developed cognitive impairment, symptoms were delayed by five years, and dementia was delayed by four years.
Accuracy
Cognitive decline in this family was delayed by about five years.
Deception
(100%)
None Found At Time Of
Publication
Fallacies
(95%)
No formal fallacies were found in the article. However, there is a slight tendency towards dichotomous depiction and an appeal to authority. The dichotomous depiction comes from contrasting the Colombian woman's rare gene mutation with the typical aggressive form of Alzheimer's disease, presenting it as either having this mutation or not. The appeal to authority is evident in quoting several experts in the field, such as Joseph F. Arboleda-Velasquez, Francisco Lopera and Yadong Huang. Their opinions are used to support the findings of the study but they are not fallacies themselves as they contribute valuable insights.
This extraordinary story of Aliria Rosa Piedrahita de Villegas...offered inspiration for a disease that afflicts millions of people, for whom hope is often in short supply.
Researchers discovered a rare genetic trait called Christchurch in an extended Colombian family that delays the onset of Alzheimer’s disease.
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Accuracy
27 people with the Paisa mutation and one copy of the Christchurch variant preserved normal memory and thinking longer than those with only the Paisa mutation.
The group that carried both Paisa and Christchurch did not exhibit memory and thinking problems until they were 52, five years later than those with only Paisa.
Researchers believe the evidence could be used to develop an Alzheimer’s drug or medication that replicates the protective effects of the Christchurch genetic variant.
Scientists studying a family plagued by early-in-life Alzheimer’s found some carry a genetic oddity that delays their initial symptoms by five years.
The finding points to novel ways of fighting the mind-robbing disease if researchers can unravel how a single copy of that very rare gene variant offers at least a little protection.
Aliria Piedrahita de Villegas, who should have developed Alzheimer’s symptoms in her 40s, made it to her 70s before suffering even mild cognitive trouble due to carrying two copies of an unrelated gene named APOE3 with a mutation called Christchurch.
The study published in the New England Journal of Medicine concluded that those carrying a single copy of the Christchurch variant showed their first signs of cognitive trouble at age 52, five years later than their relatives.
Researchers are still learning about how the rare Christchurch variant affects the underlying Alzheimer’s process, including whether it affects the common old-age type.
Accuracy
The first hint of this genetic protection came a few years ago when researchers were studying a huge family in Colombia that shares a devastating inherited form of Alzheimer’s.
Cognitive decline in this family was delayed by about five years, suggesting a drug that emulates the gene could have similar effects.
27 people with the Paisa mutation and one copy of the Christchurch variant preserved normal memory and thinking longer than those with only the Paisa mutation.
The group that carried both Paisa and Christchurch did not exhibit memory and thinking problems until they were 52, five years later than those with only Paisa.
Deception
(100%)
None Found At Time Of
Publication
Fallacies
(95%)
No formal fallacies found. There are some inflammatory rhetorics and appeals to authority. The author reports on a study without making any personal judgments or opinions about the findings.
Scientists studying a family plagued by early-in-life Alzheimer's found some carry a genetic oddity that delays their initial symptoms by five years.
