A groundbreaking study conducted by researchers at two Mass General Brigham hospitals, Mass Eye and Ear, and Massachusetts General Hospital has revealed new insights into a protective gene that may delay the onset of Alzheimer’s disease in individuals who are genetically predisposed to developing the condition. The study focused on a large extended family in Colombia with the Paisa mutation, which significantly increases the risk of early-onset Alzheimer’s disease.
Individuals with the Paisa variant typically experience mild cognitive impairment in their 40s, dementia in their 50s, and succumb to dementia-related complications in their 60s. However, researchers discovered that among over 1,000 high-risk family members, 27 individuals carrying a rare gene variant known as the APOE3 Christchurch gene exhibited a delayed onset of symptoms. On average, these individuals developed signs of Alzheimer’s five years later than those without the variant.
The findings of the study, published in The New England Journal of Medicine, highlight the potential of the APOE3 Christchurch variant in delaying the progression of Alzheimer’s disease. This discovery could have significant implications for the development of new therapies aimed at treating the condition. In a previous study conducted in 2019, a woman from the same family who possessed two copies of the protective gene variant did not exhibit any symptoms of Alzheimer’s until her 70s, much later than the average age of onset.
Dr. Joseph F. Arboleda-Velasquez, an associate scientist at Mass Eye and Ear and a key contributor to the study, emphasized the importance of replicating the protective effects of the Christchurch variant through drug development. The study involved analyzing 1,077 descendants of the Colombian family, with a focus on the 27 individuals carrying both the Paisa mutation and the protective Christchurch variant.
While the study provides valuable insights into the potential protective effects of the APOE3 Christchurch gene variant, researchers acknowledge the limitations of the study, including the relatively small sample size and the need for additional studies to confirm the variant’s protective effects. Despite these limitations, the findings offer a promising avenue for the development of novel therapies for Alzheimer’s disease.
Dr. Arboleda-Velasquez emphasized the significance of the study’s results in paving the way for the development of treatments that can leverage the protective effects of the Christchurch variant. The study serves as a call to action for researchers and pharmaceutical companies to capitalize on this discovery and develop targeted therapies for Alzheimer’s disease.
As researchers continue to explore the potential of the APOE3 Christchurch variant in delaying the progression of Alzheimer’s disease, the study underscores the importance of further research and clinical trials to unlock the full therapeutic potential of this protective gene variant. The findings of the study offer hope for individuals at high risk of developing Alzheimer’s and hold promise for transformative treatments that could benefit both individuals and populations at large.