95% of people over 65 years of age with a duplicated APOE4 gene show signs of Alzheimer’s disease or biomarkers of the disease.
A research group from the Research Area of Neurological Diseases, Neuroscience and Mental Health of the Sant Pau Research Institute, led by Juan Fortea Director of Research in Neurological Diseases, Neuroscience and Mental Health, Sant Pau Research Institute and director of the memory department of neurology services, made a startling discovery. According to their data, more than 95 percent of people over 65 years of age who are homozygous for the APOE4 gene, that is, having two copies of it, have biological characteristics associated with Alzheimer’s disease, as well as biomarkers, in their brains. of this disease in the cerebrospinal fluid and on positron emission tomography (PET) images.
This discovery represents significant progress in understanding the genetic factors involved in the development of Alzheimer’s disease and may have important implications for the diagnosis and treatment of this neurodegenerative condition.
The study, published in the journal Nature Medicine, provides important implications for understanding the disease. According to their results, people homozygous for APOE4 not only exhibit The biological features of Alzheimer’s disease are more pronounced, but the disease also develops at earlier stages. compared to those who have other variants of the APOE gene. Fortea, who led the study, said this suggests that having two copies of the APOE4 gene may represent a new genetic form of the disease. This discovery raises new questions about genetic influences on the development and progression of this neurodegenerative disease and may have important implications for diagnosis and treatment in the future.
“These findings provide a new concept of the disease or what it means to be homozygous for the APOE4 gene. This gene has been known for more than 30 years and is associated with an increased risk of developing Alzheimer’s disease. But now we know that practically All people who have this duplicated gene develop biological Alzheimer’s disease.. “This is important because they make up 2 to 3 percent of the population,” the researcher details.
New research goals
It has been established that certain mutations in three specific genes APP, PSEN1 and PSEN2 play a decisive role in the development of autosomal dominant early-onset Alzheimer’s disease, which is characterized by genetic character and can manifest itself after 40 years. On the other hand, variants in other genes have been observed to be associated with a higher risk of developing sporadic or late-onset disease. Among these genes APOE has been identified as one of the most significant genetic risk factors. for this late disease.
In this study, the researchers conducted assessment of clinical, pathological and biomarker changes in individuals homozygous for the APOE4 gene to determine your risk of developing Alzheimer’s disease. The study used data collected from 3,297 brain donors, including samples from 273 APOE4 homozygotes obtained from the National Alzheimer’s Disease Coordinating Center in the United States. In addition, clinical and biomarker data from more than 10,000 individuals, including 519 APOE4 homozygotes, from five large multicenter cohorts in both Europe and the United States were analyzed.
The results show that virtually all people homozygous for the APOE4 gene showed signs of Alzheimer’s pathology and had higher levels of biomarkers associated with the disease at age 55 compared with people carrying the APOE3 gene. By age 65, more than 95 percent of APOE4 homozygotes showed abnormal levels of amyloid in the cerebrospinal fluid., which is a key early pathological sign of Alzheimer’s disease, and 75 percent showed positive scans for amyloid. These data highlight the significant role of the APOE4 gene in the susceptibility and development of Alzheimer’s disease and suggest the importance of considering APOE genotype when assessing individual risk for this neurodegenerative disease.
“The data clearly show that having two copies of the APOE4 gene not only increases risk, but also predicts the onset of Alzheimer’s disease, reinforcing the need for specific prevention strategies,” said A.Liberto Lleo, researcher in the Dementia Neurobiology Group at IR Sant Pau and Director of the Neuroscience Service from the same hospital.
You may also like…