2023-05-17 11:20:56
Dubai, United Arab Emirates (CNN) – Researchers working to unlock the mysteries of Alzheimer’s disease say they have uncovered important evidence that could help protect those at risk of developing this type of dementia.
And a man who seemed destined to suffer amnesia in his forties or fifties, based on his family history, retained normal functions for decades longer than expected.
It appears that a rare genetic mutation protected it from this, with that mutation enhancing the function of a protein that helps nerve cells communicate.
The scientists said that understanding how this genetic mutation defends his brain may contribute to reducing the incidence of Alzheimer’s disease in others.
The man is from a large family from Colombia, many of whose members have inherited a mutated gene called Presnelin 1, or PSEN1.
It is almost certain that someone who carries the “PSEN1” gene will develop Alzheimer’s disease at a relatively early age.
Eventually, the man with the PSEN1 mutation developed memory and thinking problems.
He was then diagnosed with mild dementia at the age of 72, with a further deterioration of his memory, and an infection.
The man died of pneumonia at the age of 74.
But by all indications, he was supposed to suffer from memory and thinking problems decades earlier.
When his brain was examined after death, doctors found that it was loaded with beta-amyloid and tau, two proteins that accumulate in the brains of people with Alzheimer’s disease.
But something was also working in his favour, as a genetic analysis revealed that he had a rare mutation in a gene that encodes for a protein called Reelin that helps nerve cells communicate.
“In this case, it was very clear that the Reelin mutant made the protein work better,” said Dr. Joseph Arboleda-Velazquez, an assistant professor in the Department of Ophthalmology at Harvard University and lead author of a new study centered on this man.
“It gives us an important insight,” Arboleda-Velazquez added. “It’s very clear that just putting more Reelin in the brain could actually help patients.”
The study was published Monday in the journal Nature Medicine.
The enhanced Reelin seemed to protect a very specific part of the man’s brain, an area called the entorhinal cortex located behind the nose at the base of the brain.
Arboleda-Velazquez confirmed, “Another conclusion stemming from this case is that you probably don’t need this (protein) everywhere in the brain.”
The entorhinal cortex is particularly sensitive to aging and Alzheimer’s disease, and this region of the brain also sends and receives signals related to the sense of smell.
Loss of the sense of smell often heralds changes in the brain that lead to problems with memory and thinking.
This is the second time that Arboleda-Velasquez and his team studying this family have found someone challenging their genetic potential.
In 2019, scientists reported the case of a woman who should have developed early Alzheimer’s disease, but who maintained her memory and abilities well into her seventies.
The Harvard team is already working on developing a treatment based on these findings.
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