WASHINGTON (dpa-AFX) - Research conducted by Mass Eye and Ear and Massachusetts General Hospital, both part of Mass General Brigham, has been focused on a large extended family in Colombia with multiple members carrying the Paisa mutation, which indicates a very high genetic risk of developing early-onset Alzheimer's disease. This ongoing study builds upon previous research performed in 2019 on a unique Colombian family predisposed to inheriting the disease.
The study, published in The New England Journal of Medicine, revealed that 27 individuals from this Colombian family who possessed a genetic variant known as the APOE3 gene (Christchurch) developed Alzheimer's disease five years later than those without the variant. These findings shed light on the potential protective effects of this genetic variant in delaying the onset of the disease.
The recent study follows up on the 2019 research, where a woman from the same family, with two copies of the protective APOE3 Christchurch variant, remained symptom-free until her 70s, significantly later than the typical onset age of 44 for Alzheimer's disease. This remarkable case emphasizes the potential significance of the Christchurch genetic variant in protecting the development of Alzheimer's.
Experts from Mass General Brigham have expressed optimism about the implications of this evidence in the development of potential treatments. Co-senior author Joseph F. Arboleda-Velasquez, MD, Ph.D., an associate scientist at Mass Eye and Ear, highlighted the significance of the study, stating, 'Our new study is significant because it increases our confidence that this target is not only protective but druggable. We think that therapeutics inspired by protected humans are much more likely to work and to be safer. We have enough evidence, and now the focus should be on trying to leverage this discovery to our therapies.'
In addition, neurogeneticist John Hardy from the U.K. Dementia Research Institute at University College London pointed out the growing interest from pharmaceutical companies in targeting APOE, considering the newfound complexities unveiled by the protective nature of the Christchurch variant against Alzheimer's. He emphasized that changes in the brain associated with Alzheimer's, such as the accumulation of amyloid and tau proteins, occur well before symptoms manifest.
Furthermore, researchers have made progress in developing an experimental antibody drug that mimics the Christchurch variant. In tests on genetically modified mice exhibiting Alzheimer's features, the drug was found to reduce the buildup of tau tangles, suggesting a promising direction for future therapeutic developments.
The ongoing research underscores the potential of the Christchurch variant as a therapeutic target and offers hope for the development of effective treatments for Alzheimer's disease.
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