For many, a family history of Alzheimer’s disease feels like a heavy, ominous cloud hanging over them. But through the clouds comes a small glimmer of light: Scientists have found a second man in his early 40s who should have developed Alzheimer’s symptoms but didn’t.
The matter is mixed Who else is identified Several years ago, a genetic mutation played a role in delaying the symptoms of her own Alzheimer’s pathology.
Rather than receive a life-changing diagnosis, the recently-revealed Columbian continued to work until he retired in his early 60s, and years later, at age 67, the first signs of cognitive decline began to appear.
An examination of the brain revealed that the brain was removed and loaded with molecular markers of the disease: large clumps of sticky protein known as amyloid plaques, along with another protein called tau. Such clusters are often seen in people with severe dementia. Yet the man somehow survived Alzheimer’s disease beyond anyone’s expectations.
In addition to the genetic variation that the test predicted, the man linked the protein Relin to another gene that appears to have prevented him from developing Alzheimer’s disease for more than two decades.
The man had very low levels of tau in a small part of his brain where neurons are involved in memory and navigation. As if the genetic lottery gave a protein that prevents Alzheimer’s disease in this important part of the brain He usually loses Very early in the disease.
Little is currently known about Relin’s role in Alzheimer’s disease, but animal experiments by a team of animal researchers led by Colombian neurologist Francisco Lopera have shown that a mutation in Relin stopped tying proteins around neurons in the brains of mice. They are the findings of the group. Published Natural medicine.
Neuroscientist Catherine Kazorowski, who was not involved in the study They spoke Nature Reading the paper “made the hair on my arms stand up.”
“It’s an important new way to pursue new treatments for Alzheimer’s disease.” he said. Kaczorowski, a researcher at the University of Michigan in Ann Arbor.
The hope is that by studying how Relin interacts with Alzheimer’s proteins and protects neurons with their receptors, researchers may find ways to boost resistance to all forms of Alzheimer’s disease, not just those who inherit the protective variant.
Although Lopera was from a family It follows in Colombia For nearly 40 years, we have been learning a lot about Alzheimer’s disease. In the man’s family, which spans decades, generations and about 6,000 people, many have a common mutation that causes Alzheimer’s disease to strike in middle age.
Normally the Paisa mutation After donating their blood, body and mind for research in the Antioquia region of Colombia.
According to journalist Jenny Erin Smith He wrote for Andark in 2019Alzheimer’s research “is beginning to understand the progression of the disease and to test treatments that may interrupt the disease and focuses on families with genetic variants of the disease.”
In the latest study, Lopera and colleagues at the University of Antocia in Medellin, Colombia, analyzed clinical and genetic data from about 1,200 Colombian relatives. They identified the new and extremely rare variant in a cognitively intact man and his sister, who was less protected than her brother and died years earlier.
In the year In 2019, Lopera and colleagues reported another case of a woman who carried the Paisa mutation and showed no signs of cognitive decline until her 70s — 30-odd years later than expected for mutation carriers. Studies have shown that she also has an abnormally low level of tau in her brain, but her resistance to Alzheimer’s is due to a different mutation in another gene: APOE.
Researchers think there may be some overlap or interaction Differences between variable Relin and APOE proteins may explain their protective effects, but other genetic differences may also contribute. Now Lopera and colleagues say their findings could help shape new hypotheses about Alzheimer’s disease.
In time, if therapies targeting the Reelin signaling pathway can be developed, they “could have profound therapeutic implications in combating tau pathology and neurodegeneration and cognitive decline and dementia in Alzheimer’s disease,” the researchers said. To conclude.
The study was published in Natural medicine.