The Research Institute of the Hospital de la Santa Creu i Sant Pau (IR Sant Pau) of Barcelona has led a study that has identified a new genetic form of the disease Alzheimer’sthe duplicity of the APOE4 gene.
The research, published in the journal Nature Medicineconcludes that “virtually” all people who have two copies of the APOE4 gene (APOE4 homozygotes) develop signs of Alzheimer’s disease and proposes a reconceptualization of this genetic form, until now considered a risk factor, reported this Monday in a statement.
The study analyzed data from 3,297 brain donors, with samples from 273 APOE4 homozygotes from the National Alzheimer’s Coordinating Center in the United States, and from more than 10,000 people, including 519 APOE4 homozygotes from five multicenter cohorts in Europe and the United States of subjects with biomarkers. of Alzheimer’s.
Researchers have observed that more than 95% of people over 65 years of age who have duplication of the APOE4 gene show biological characteristics of Alzheimer’s in the brain or biomarkers of this disease in the cerebrospinal fluid and PET.
“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”
Based on these results, they have stated that APOE4 homozygotes, instead of a risk factor, represent a genetically determined form of Alzheimer’s disease, Therefore, they suggest a reconceptualization of the disease similar to that proposed a few years ago in Down syndrome.
Millions of people in the world have this genetic duplicity, and in Spain there could be a million people, according to The vanguard.
Individualized therapies
The director of the Research Area in Neurological Diseases, Neuroscience and Mental Health of the IR Sant Pau, Juan Fortea, has stated that “the ultimate cause is in the genes” and has stressed the importance of this finding because between 2% and 3% of the population has this genetic variantwhich represents 15% of Alzheimer’s cases.
Researcher Alberto Lleó explained that “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, reinforcing the need for specific preventive strategies.
Fortea added that the study has detected that there are populations with specific causes of Alzheimer’s and that understanding the causes of the disease and its subtypes allows “moving towards a future with more individualized therapies”, as has happened in the treatment of oncology.
