Study reveals that almost all individuals with two copies of the APOE4 gene develop signs of Alzheimer's

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Researchers from the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, led by Dr.

Study reveals that almost all individuals with two copies of the APOE4 gene develop signs of Alzheimer's Juan Fortea, Director of the Memory Unit of the Neurology Service at the same hospital, have found that over 95% of individuals over 65 years old who have two copies of the APOE4 gene—APOE4 homozygotes—show biological characteristics of Alzheimer's pathology in the brain or biomarkers of this disease in cerebrospinal fluid and PET scans.

In this work, researchers evaluated clinical, pathological, and biomarker changes in APOE4 homozygotes to determine their risk of developing Alzheimer's disease. The results suggest that virtually all APOE4 homozygotes showed Alzheimer's pathology and had higher levels of disease-associated biomarkers at age 55 compared to individuals with the APOE3 gene.

Researcher Dr. Víctor Montal, who actively participated in this study during his time at Sant Pau and now studies the molecular structure of the APOE gene at the Barcelona Supercomputing Center, adds that"the findings emphasize the importance of monitoring APOE4 homozygotes from an early age for preventive interventions.": Study reveals that almost all individuals with two copies of the APOE4 gene develop signs of Alzheimer's retrieved 6 May 2024 from https://medicalxpress.

 

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