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Sant Pau Research Institute Unveils Groundbreaking Findings Led by Dr. Juan Fortea
In a groundbreaking study published in Nature Medicine, researchers from the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, spearheaded by Dr. Juan Fortea, Director of the Memory Unit of the Neurology Service at the same hospital, have uncovered a profound correlation between individuals over 65 years old who possess two copies of the APOE4 gene—known as APOE4 homozygotes—and the manifestation of Alzheimer’s pathology in the brain.
The study, which assessed clinical, pathological, and biomarker changes in APOE4 homozygotes, shed light on the genetic predisposition to Alzheimer’s disease. Drawing data from 3,297 brain donors and over 10,000 individuals, the researchers found that an overwhelming majority of APOE4 homozygotes exhibited biological hallmarks of Alzheimer’s disease, including abnormal levels of amyloid in cerebrospinal fluid and positive amyloid scans, significantly earlier than individuals with other variants of the APOE gene.
Dr. Fortea underscored the significance of these findings, stating, “These data represent a reconceptualization of the disease or what it means to be homozygous for the APOE4 gene. This gene has been known for over 30 years…but now we know that virtually all individuals with this duplicated gene develop Alzheimer’s biology.”
The study challenges the conventional understanding of Alzheimer’s disease genetics, suggesting that possessing two copies of the APOE4 gene may constitute a distinct genetic form of the disease. This revelation marks a paradigm shift in Alzheimer’s research, akin to the reclassification of Down syndrome as a genetically determined form of Alzheimer’s disease in previous years.
Dr. Alberto Lleó, a researcher in the Dementia Neurobiology Group at the Sant Pau Research Institute, emphasized the urgent need for tailored prevention strategies in light of these findings. “The data clearly show that having two copies of the APOE4 gene not only increases the risk, but also anticipates the onset of Alzheimer’s,” he stated.
Echoing this sentiment, Dr. Víctor Montal, a researcher formerly associated with Sant Pau and now based at the Barcelona Supercomputing Center, stressed the importance of early monitoring for APOE4 homozygotes to facilitate timely preventive interventions.
The implications of this research extend beyond diagnosis to the realm of personalized treatment approaches and clinical trials. By elucidating the distinct genetic underpinnings of Alzheimer’s disease in APOE4 homozygotes, the study paves the way for targeted therapeutic interventions tailored to this specific population.
As the global burden of Alzheimer’s disease continues to escalate, these findings offer a beacon of hope for more effective management and prevention strategies, heralding a new era in Alzheimer’s research and treatment.
