A Colombian man continues to amaze science. When he was less than 40 years old, doctors noticed that he had a genetic mutation that would condemn him to suffer from dementia and Alzheimer’s before he turned 50. No option or treatment could save him.
However, when the dreaded 44 years arrived—the limit that doctors had given him for the onset of severe cognitive impairment—it never happened. He continued to work normally, turned 60 and retired and, finally, the dreaded dementia developed moderately at the age of 74, which is when he died.
This man managed to avoid Alzheimer’s for almost two decades and science does not understand how. In fact, in the world, there is only one case of this miraculous ability to resist the harmful gene. These are the findings of science.
Scientists hope that by analyzing two cases of people who managed to avoid Alzheimer’s, they can develop new treatments to protect other patients from this disease that affects millions. in the world.
After examining the Colombian’s genome, they discovered that he had a different mutation that would help protect him against the disease. In addition, in the brain scans they performed, they found an important region of his brain that was also protected from the harmful gene.
The normal course of this gene, called presenilin 1, is aggressive and predictable. The study of the neurologist Francisco Lopera, from the University of Antioquía in Medellín, Colombia, in a family carrying this gene was able to estimate what the process is.
By age 20, the brain becomes clogged with amyloid plaques, characteristic of Alzheimer’s. In the mid-30s, the “tangles” of the tau protein, associated with the disease, appear. The first signs of cognitive problems begin at the age of 44 and, at the age of 49, full dementia begins and death usually occurs at the age of 60.
According to science, nothing can be done to stop this fatal degeneration.
But in 2019, when a patient showed that, despite having the gene, the disease did not develop until he was 70 years old, scientists were amazed. And more, when now, they saw another man with the same character.
However, the mystery deepened when it was studied: the woman had a genetic mutation called Christchurch, and her brain was relatively free of Tau tangles. The man does not have these characteristics. So what protects them both?
“I think it raises a lot of interesting questions. “I don’t know if we have answers,” said one of the leaders of the study, Joseph F. Arboleda-Velasquez, a Harvard scientist.