They identify a new genetic profile

barely All people who have two copies of the APOE-4 gene will show signs of Alzheimer’s disease. This is what the specialists of the Research Institute ofSaint Pau Hospital Barcelona, ​​who conclude that this is the one A different hereditary form of the disease.

A situation that, according to research published Monday in the journal Nature Medicine, could affect Between 2 and 3% of the world’s population.

New perspective

The APOE-4 gene has been known for more than 30 years It was already known that it was associated with greater risks to Alzheimer’s disease, he recalls Juan ForteaDirector of the Neurological Research Area at the Saint Pau Research Institute, and this is the “first time” that this has been discovered Its existence represents in itself a specific form From this disease.

This is progress that the investigator considers a “paradigm change,” according to Fortea. It will allow the disease to be “re-imagined”..

“We’re talking about many millions of people who, because of the presence of this gene, are expected to have a biological variant of Alzheimer’s disease.”

This means that more than 95% of these people, in all likelihood, will have accumulations of beta-amyloid and THA proteins, which are precursors of Alzheimer’s disease.

Data and samples from thousands of European and American patients were studied (Saint Pau Research Institute)

The study was conducted with data from More than 10,000 patients And analyze samples thereof More than 2000 brains Which has been disclosed to the authors.

“It doesn’t matter if they had symptoms or not. The brains that were studied (both living and dead people), from ages 60 or 65, already had the biology of Alzheimer’s in them.”

Improve diagnosis

This research is particularly important because, although it does not establish new timelines for the development of Alzheimer’s disease, it does It places two copies of this gene on the same level as other known forms of the disease: The presence of certain proteins that cause this or Down syndrome, a condition that also helps the accumulation of beta-amyloid protein in the brain.

See also  Italy and Japan for further cooperation in space research

A new warning sign, according to specialists, “may be useful for the development of individualized prevention strategies, clinical trials and treatment approaches targeting this specific population.”

Officials consider this breakthrough a “paradigm change” (Saint Pau Research Institute)

Currently, the first drugs that can stop the disease at the first symptoms – approved in the United States, but not yet in Europe – already exist.

However, for Fortea It would be premature to consider the possibility of performing genetic screening on the population To see if they have this double gene without knowing if these drugs can also work when a person has not yet shown the first symptoms.

Therefore, for now, we will have to wait for the first signs before we can act.

Leave a Reply

Your email address will not be published. Required fields are marked *