Study reveals new form of genetic Alzheimer’s disease in millions of people over 65

The new discovery will change the way the disease is diagnosed and treated, but much remains to be learned.

A recent study related to Alzheimer’s disease revealed a new finding in this neurodegenerative disease: more than 95% of people over 65 have two copies. APOE4 gene, which presents biomarkers of Alzheimer’s disease in cerebrospinal fluid and PET scans; this means that these people will have high risk of developing this disease

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The study, carried out by Juan Fortea, director of the memory department of the neurological service of the Sant Pau Hospital in Barcelona, ​​is considered a discovery, since until now studies have only shown that some of them were considered to be genetic forms of Alzheimer’s disease. rare changes in three genes. What is proposed as new in this study is a new path of disease development due to genetic factors.

This conclusion was reached after analyzing data from more than 3,000 donated brains and clinical data from more than 10,000 patients who carried two copies of the APOE4 variant, which was previously considered only a risk factor and which in this new study turned out to be the key to success. development of the disease. Researchers already knew that APOE was one of the genes with a higher risk factor for late-onset disease, but based on the new findings, the authors suggest that the APOE4 genetic variant represents a different genetic form of the disease.

“This data represents reconceptualization of the disease or what it means to be homozygous for the APOE4 gene,” says Fortea in the study, who also adds in an interview with A country: “Between 2% and 3% of the total Caucasian population carry a double copy of the APOE4 gene, which That means millions of people around the world.”

Likewise, the study also notes that these results also age can be predicted to which these people will begin suffer Symptoms of Alzheimer’s disease. TO approximately 65 years old

and about 10 years earlier than those who carry other less dangerous variants of the APOE gene, namely 3 or 2.

“The next step,” explains Fortea, “will be to collect data from thousands of patients to determine how much risk carriers of this variant have of being diagnosed with Alzheimer’s disease. This project is already being implemented. If the results confirm that it is a genetic disease, which predisposes to this disease in almost 100% of cases, it is possible that change current medical recommendations O diagnosis and treatmentincluding the use of genetic tests and communication of results to patients,” according to the same article A country.

Without a doubt, these are very important findings for promoting the prevention of this disease through various approaches and prevention strategies that allow the release of truly effective and disease-modifying drugs.

Photos | Cotton Studio by Anna Shvets via Pexels

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