Researchers at the Sant Pau Research Institute in Barcelona, under the leadership of Dr. Juan Fortea, have made significant findings concerning Alzheimer’s disease, particularly in individuals with two copies of the APOE4 gene.
This research group, specializing in neurological diseases, has highlighted that over 95% of people over 65 who are APOE4 homozygotes exhibit early biological signs of Alzheimer’s in brain studies or fluid tests.
Published in Nature Medicine, their study indicates that these individuals not only develop the disease earlier than those with other gene variants but also show a distinct pattern of disease progression that suggests APOE4 homozygosity could be considered a separate genetic form of Alzheimer’s disease.
This revelation is changing how researchers view the genetic aspects of Alzheimer’s, especially since the APOE4 gene has been linked to the disease for over three decades.
The study analyzed data from more than 3,200 brain donors, including 273 who were APOE4 homozygotes, from the National Alzheimer’s Coordinating Center in the United States.
Additionally, clinical and biomarker data from over 10,000 individuals, including 519 APOE4 homozygotes, were studied from five large multicenter cohorts across Europe and the U.S.
Dr. Fortea’s team found that at age 55, these individuals displayed higher levels of Alzheimer’s-associated biomarkers compared to those with the APOE3 gene.
By the age of 65, a striking 95% of APOE4 homozygotes showed abnormal amyloid levels in their cerebrospinal fluid, a crucial marker for early Alzheimer’s pathology, and 75% had positive amyloid scans indicating significant disease presence.
This has led to a shift in understanding; APOE4 homozygosity is not just a risk factor but a distinct genetic pathway for Alzheimer’s disease.
This perspective aligns with previous research from Sant Pau involving Down syndrome, which also recognized a genetic basis for Alzheimer’s in these individuals.
The implications of this study are profound, offering potential for developing personalized prevention strategies and targeted treatments.
As Dr. Alberto Lleó, another leading researcher at Sant Pau, points out, the data not only confirms the increased risk and earlier onset of Alzheimer’s in APOE4 homozygotes but also reinforces the need for early and specific preventive measures.
Dr. Víctor Montal, who contributed to this study and currently works at the Barcelona Supercomputing Center, emphasizes the importance of early monitoring for APOE4 homozygotes. Starting preventive interventions early could significantly impact the progression of Alzheimer’s, potentially delaying or reducing its severity.
These findings pave the way for new approaches in clinical trials and treatment strategies, aiming to address the specific needs of this genetically susceptible population.
As the research progresses, it could lead to more effective management of Alzheimer’s, transforming the lives of many who carry this genetic trait.
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The research findings can be found in Nature Medicine.
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