Researchers have found a rare trait that can delay the onset of Alzheimer’s in people who face a high risk of developing dementia.
A study published Wednesday in the New England Journal of Medicine reported that 27 people from a large Colombian family carrying the Christchurch gene developed Alzheimer’s disease several years later. than expected. The research is based on the first study in 2019 from a unique family that is expected to pass on the disease. The researchers found that a woman with one particular trait delayed the onset of Alzheimer’s by about thirty years.
Scientists from Mass General Brigham believe that the evidence can be used to develop an Alzheimer’s drug or drugs to replicate the immune system of the genetics. of Christ.
“We have enough evidence, and now we have to focus on trying to use this research in our treatments,” said Dr. Joseph Arboleda-Velasquez, a scientist at Mass. General Brigham who wrote the study. The main objective, he said: “How can we learn from the protective experience of Christ to create new treatments that help everyone?”
Why did researchers focus on a family in Colombia?
The study was isolated in South America where the participants worked with a set of unusual data. More than 1,000 members of an extended family in Colombia have a genetic mutation that puts them at risk of early onset Alzheimer’s disease. Symptoms usually begin in the family’s mid-40s. The migrants are part of an extended family of about 6,000 people living in and around Medellin, Colombia. In the 1980s, a neurologist from the University of Antioquia, Francisco Lopera, discovered the family that suffered from this hereditary change, passed from generation to generation, for many years. Using advances in basic research, doctors discovered the genetic mutation that caused the onset of Alzheimer’s in these family members. It was called the change of Paisa, named after the people of the region.
What did this study investigate?
From 1995 to 2022, researchers from the University of Antioquia in Medellin collected detailed information about family members who participated in a series of medical studies. Family members underwent medical tests, genetic tests and neuropsychological tests.
The researchers studied the details of the family members who carried Paisa’s change. Researchers found that Paisa mutation carriers tend to develop memory and thinking problems in their mid-40s and often die more than a decade later.
In 2019, researchers found a woman who carried the Paisa mutation and didn’t experience symptoms of Alzheimer’s until she was 70 years old — about three decades later than the usual symptoms. then appear in Paisa mutation carriers. Genetic testing revealed that he also has two copies of the Alzheimer’s gene APOE3, known as the Christchurch variant.
In the study published this week, the researchers investigated whether Christianity offered additional protection to people who also have the Paisa mutation. They found 27 individuals with the Paisa mutation and one copy of the Christ variant. Those people preserved familiar memories and thoughts longer than a comparison group that had just received the Paris change.
The group that had only Paisa showed signs of disease at a median age of 47 years, while those who carried Christetes and Paisa did not show any problems with the disease. thinking and thinking until 52-5 years later.
Yakeel T. Quiroz, a research associate and research neuropsychologist and neuroimaging researcher at Massachusetts General Hospital, said that research studies “have shown the ability to delay cognitive decline and deterioration in the elderly .”
Quiroz added that the findings can be used to develop effective treatments to prevent Alzheimer’s disease.
What’s next for drug development?
Arboleda-Velasquez, who works as an assistant professor of Harvard Medical School of ophthalmology, said that his laboratory is using these research findings to develop active drugs that can fight Alzheimer’s disease.
His goal is to begin testing the drug in human trials in 2026.
Eric Reiman, the executive director at the Banner Alzheimer’s Institute in Phoenix and a co-author of the study, said that the study reinforces “the idea that this abnormal change is the main risk factor.” for Alzheimer’s disease has a protective role in the development of Alzheimer’s.”
Reiman said that more research is needed on the main role of APOE on the signs of the disease, including beta-amyloid plaques and tau tales that are found in Alzheimer’s patients.
The Christensen study “provides further support for the hypothesis of APOE’s relevance in the treatment and prevention of Alzheimer’s disease.”
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