A new genetic form of Alzheimer’s disease identified.
Posted by giorgiobertin on May 7, 2024
The results of this study conducted by researchers at Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research InstituteSpain, indicate that the APOE4 form of the APOE gene, already “investigated” for some time in the context of Alzheimer’s, is strongly correlated with the risk of onset of the disease.
In particular, people whose genome contains a double copy of this form of the gene – called APOE4 homozygotes – have a very high probability of developing the disease and of developing it earlier than those with other variants of the same gene. So much so that homozygosity for APOE4 could represent a new genetic form of the disease.
In this work, researchers evaluated clinical, pathological, and biomarker changes in APOE4 homozygotes to determine their risk of developing Alzheimer’s disease.
The findings suggest that virtually all APOE4 homozygotes exhibited Alzheimer’s pathology and had higher levels of disease-associated biomarkers at age 55 compared to individuals with the APOE3 gene.
The authors highlight that these findings could be useful for the development of personalized prevention strategies, clinical trials and targeted therapeutic approaches for this specific population.
Read the full text of the article:
APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease
Juan Fortea, Jordi Pegueroles, Daniel Alcolea, Olivia Belbin, Oriol Dols-Icardo, Lídia Vaqué-Alcázar, Laura Videla, Juan Domingo Gispert, Marc Suárez-Calvet, Sterling C. Johnson, Reisa Sperling, Alexandre Bejanin, Alberto Lleó, Víctor Montal .
Nature Medicine Published on line 06 May 2024
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