A gene mutation protected a man from Alzheimer’s disease for 27 years

A gene mutation protected a man who would have developed Alzheimer’s disease in his 40s. The New York Times writes about the unexpected discovery with reference to a study in the journal Nature Medicine.

At first it seemed that the patient could not avoid the disease at this age. A scan of his brain revealed severe atrophy and the hallmarks of Alzheimer’s: rough, hard, amyloid plaques and spaghetti-like tangles of tau protein. But the fatal brain disease did not appear until the man was 67 years old.

Now researchers have found that the patient was protected because another mutation in another gene blocked the disease from entering the entorhinal cortex of the brain. This area of the brain is the center of neurons responsible for memory, object recognition, navigation and time perception. And this is where, according to scientists, Alzheimer’s disease begins.

“This really holds the secret to the next generation of therapeutics,” said Dr. Joseph F. Arboleda-Velasquez, a cell biologist at MIT in Boston and a member of the research team.

At the same time, Dr. Dr. Diego Sepulveda-Falla, a neurologist from the University of Hamburg in Germany and a member of the research team, does not rule out that drugs that postpone the disease for two decades already exist. The mutation leads to the appearance of a powerful version of the protein Reelin in the entorhinal cortex of the brain. This protein ultimately prevents the tangled strands of tau proteins from clumping together and forming the structures that are characteristic of Alzheimer’s disease. So the idea is to “go in with a syringe and treat just one area” of the brain. Although there is a skeptical attitude towards such treatment.

The described man participated in a study of 6,000 people who live in Colombia and have a gene mutation that causes Alzheimer’s disease in middle age. Many of the participants agreed to genetic testing, brain scans, and postmortem brain autopsies.

A few years ago, during research, a woman who was also protected from this disease was discovered. But in her case, the resistance was caused by a mutation in another gene, APOE. However, researchers believe that these cases open a new way to treat the dreaded disease.

We will remind you that Alzheimer’s disease is difficult to treat. In the US, more than 6 million people have it.