By Amber Roman
Jun 23, 2024, 11:00 AM EDT
A new study has identified a protective gene that could delay the onset of Alzheimer’s in people predisposed to developing it. Researchers at two Mass General Brigham institutions, Mass Eye and Ear and Massachusetts General Hospital, have focused their studies in a large Colombian family known to have several members with the Paisa mutation, a genetic factor that significantly increases the risk of early-onset Alzheimer’s.
Most people with this mutation begin to experience cognitive decline by age 40., develop dementia in their 50s and die from related complications in their 60s. However, among more than 1,000 members of this family, 27 people carrying a rare genetic variant, known as APOE3 Christchurch, showed a delay in the onset of symptoms. On average, these individuals began to show signs of Alzheimer’s five years later than those without the variant.
This finding is significant compared to current treatments for Alzheimer’s, which They only manage to delay the progression of the disease for about six months. The study results were published Wednesday in The New England Journal of Medicine and could have important implications for the development of new drugs.
The study is a continuation of a 2019 investigation in which a woman from the same family, carrying two copies of the APOE3 Christchurch variant, He did not develop symptoms of Alzheimer’s until he was 70, decades after the average age of onset, which is 44 years. Joseph F. Arboleda-Velasquez, MD, PhD, associate scientist at Mass Eye and Ear and originally from Colombia, has been involved in the study of this family for years as part of his medical training.
“The Colombian woman who beat Alzheimer’s truly took the world by surprise; “It was a surprising discovery,” Arboleda-Velasquez told Fox News Digital. “But we also had to be cautious. Was it really true? Could it be reproduced? “It would be amazing to develop treatments that replicate the effect of the Christchurch variant, but we didn’t have enough evidence.”
To corroborate these findings, the research team expanded their study to 1,077 descendants of the Colombian family, focusing on the 27 carriers of the Paisa mutation and one copy of the protective Christchurch variant. On average, these individuals began to show signs of cognitive decline at age 52, compared to age 47 for those without the Christchurch variant.
Additionally, scans of two of these individuals showed reduced signs of tau and amyloid plaques, proteins that accumulate in the brains of Alzheimer’s patients, according to the press release.
Although the original woman’s case could have been considered an anomaly, Arboleda-Velasquez emphasizes that this new study provides more evidence to support the creation of a drug development program. “This study gives us more evidence that could help support the creation of treatments that mimic the effect of the Christchurch variant,” she said.
The researchers highlight the need for additional studies with larger and more diverse groups to confirm the protective effect of the variant and determine clear goals for possible treatments. This discovery opens new hope in the fight against Alzheimer’s and could radically change the approach to treatment of this devastating disease.
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