Rare gene mutation provides resistance against Alzheimer’s
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A recent study published in The New England Journal of Medicine revealed that a Colombian family, known for their genetic predisposition to Alzheimer’s, also carries a rare gene mutation that offers resistance to the disease. The finding that a single copy of the rare gene mutation called the Christchurch variant provides some protection is a promising clue for researchers developing new therapies. By understanding the protective mechanisms of this gene mutation, scientists hope to develop a drug that mimics the gene’s effects, potentially benefiting millions at risk of this debilitating condition.
Source
Quiroz, Y. T., Aguillon, D., Aguirre-Acevedo, D. C., Vasquez, D., Zuluaga, Y., Baena, A. Y., Madrigal, L., Hincapié, L., Sanchez, J. S., Langella, S., Posada-Duque, R., Littau, J. L., Villalba-Moreno, N. D., Vila-Castelar, C., Ramirez Gomez, L., Garcia, G., Kaplan, E., Rassi Vargas, S., Ossa, J. A., Valderrama-Carmona, P., … Arboleda-Velasquez, J. F. (2024). APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease. The New England journal of medicine, 390(23), 2156–2164. https://doi.org/10.1056/NEJMoa2308583