Breakthrough Alzheimer’s Disease Study Highlights Protective Gene’s Role in Delaying Disease

Breakthrough Alzheimer’s Disease Study Highlights Protective Gene’s Role in Delaying Disease

Alzheimer’s Disease Study Highlights Protective Gene’s | Healthcare 360 Magazine

A groundbreaking study on Alzheimer’s disease has brought new insights into a gene that appears to delay the onset of the condition in individuals predisposed to develop it. Conducted by researchers from Mass Eye and Ear and Massachusetts General Hospital, both part of Mass General Brigham, the study focused on a large extended family in Colombia. This family has numerous members carrying the Paisa mutation, a genetic variant known to significantly increase the risk of early-onset Alzheimer’s disease.

Typically, individuals with the Paisa mutation begin to show mild cognitive impairment in their 40s, progress to dementia in their 50s, and often succumb to complications related to dementia in their 60s. However, researchers identified 27 family members who possessed a single copy of a rare gene variant, the APOE3 Christchurch gene. These individuals experienced a delayed onset of Alzheimer’s symptoms by approximately five years compared to their relatives without the variant.

This finding is particularly striking when compared to current Alzheimer’s drugs, which generally slow disease progression by only about six months. The study, published in The New England Journal of Medicine, offers promising new avenues for Alzheimer’s drug development.

The Impact of the APOE3 Christchurch Variant

This research follows a notable 2019 study of a Colombian woman from the same family who had two copies of the protective APOE3 Christchurch variant. Remarkably, she did not exhibit any Alzheimer’s symptoms until her 70s, which is decades later than the typical onset age of 44 for those with the Paisa mutation. Dr. Joseph F. Arboleda-Velasquez, an associate scientist at Mass Eye and Ear originally from Colombia, played a key role in this study. He had previously studied this woman’s case extensively during his medical training.

“The discovery of the Colombian woman who beat Alzheimer’s was groundbreaking,” Dr. Arboleda-Velasquez told Fox News Digital. “However, we needed more evidence to confirm if the Christchurch variant could truly protect against the Alzheimer’s disease and if its effects could be replicated in others.”

In pursuit of this evidence, the researchers embarked on an extensive project to find more individuals carrying the Christchurch variant. This latest study involved analyzing 1,077 descendants of the Colombian family and focusing on the 27 people who had both the Paisa mutation and one copy of the protective variant. These individuals started showing cognitive impairment at an average age of 52, compared to 47 for those without the Christchurch gene.

Potential for Transformative Alzheimer’s Disease Treatments

The study also revealed that two of the 27 individuals showed reduced signs of tau and amyloid plaques—proteins that accumulate in the brains of Alzheimer’s disease patients. This discovery strengthens the case for the protective effect of the Christchurch variant, moving beyond the initial finding of a single “one-time wonder” case.

Dr. Arboleda-Velasquez emphasized the broader implications of these findings: “Now, we have evidence from 27 more men and women—varying in occupations, lifestyles, and living conditions—who all have the Christchurch variant and are protected. This data supports the development of therapies that mimic the protective effect of the Christchurch gene.”