Researchers Alzheimer's breakthrough, identify 'protective gene' that delays disease
Chris Lawson
June 20, 2024
Paisa variant
Alzheimer's research reveals a protective gene slowing the disease progression in individuals with the Paisa mutation, studied by scientists from Mass General Brigham hospitals, Mass Eye and Ear, and Massachusetts General Hospital.
Individuals with the Paisa variant experience mild cognitive decline in their 40s, progress to dementia in their 50s, and succumb to dementia-related complications in their 60s, as stated in a press release.
Unique gene
Among over 1,000 at-risk family members, 27 individuals carrying a unique gene variant - the APOE3 gene, also known as Christchurch - displayed a delayed onset of symptoms.
Current medications
Research finds individuals with a protective gene variant show Alzheimer's symptoms around five years later than those without it, contrasting with current medications that only marginally slow progression by six months. The study's release in The New England Journal of Medicine suggests potential for new drug development.
Significant delay
Dr. Joseph F. Arboleda-Velasquez, an associate scientist at Mass Eye and Ear, studied a case in Colombia where a woman carrying the protective APOE3 Christchurch variant remained symptom-free until her 70s, a significant delay from the typical onset age of 44. The 27 family members, on average, started displaying signs of cognitive decline at the age of 52, in contrast to 47 for those lacking the Christchurch variant.
The presence
Imaging scans for two individuals indicated a decrease in the presence of tau and amyloid plaques, the proteins known to accumulate in the brains of Alzheimer's patients, according to the press release.
Additional evidence
Arboleda-Velasquez noted that although the initial woman's case could have been seen as a "one-time wonder," this latest study offers additional evidence that could bolster the foundation for a drug development initiative.
Are all protected
"Now, instead of one person, we have 27 more men and women — some who work, some who are retired, some in rural areas, some in the city — who all have the Christchurch variant and are all protected," he said.
Move forward
"And now we can move forward with trying to develop therapies that do exactly the same thing." He added, "This could really transform lives — not just of the individual, but at the population level."
Small group
Researchers note limitations in the study focusing on a small group with specific genetic variants from one family. To confirm the protective effect and find treatment targets, larger and more diverse studies are necessary. Ongoing progress in experimental therapies is being emphasized by Arboleda-Velasquez.
Very intrigued
"A lot of people were very intrigued by the initial Christchurch finding [in 2019], and now this is different," he said. "This is a call to action — a call to make drugs that can leverage this discovery."
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