2023-05-21 13:16:18
A new genetic variant that protects against Alzheimer’s disease has been identified by an international team led by researchers from Harvard Medical School, Massachusetts General Hospital and Massachusetts Eye and Ear.
This is a major breakthrough for Alzheimer’s disease. The work of researchers, published on May 15 in the scientific journal Nature Medicinereports the discovery of a genetic variant capable of protecting against Alzheimer’s disease.
The publication details the case of a patient with a genetic predisposition to the development of early-stage Alzheimer’s disease. Despite high risk of early onset, the patient remained cognitively intact into his late 60s. He was protected from Alzheimer’s disease by a rare genetic mutation that controls the functioning of a protein that helps cells communicate.
LA MUTATION «PAISA»
The scientists looked at a Colombian family with a genetic predisposition to early Alzheimer’s disease, called the ‘Paisa’ (Presenilin-1 E280A) mutation. Normally, people with this condition develop memory problems around age 42, dementia in their mid-50s, and die from complications of the disorder around their 60s. The diary ofHarvard University explains that the patient identified by the team remained cognitively intact until the age of 67. He developed mild dementia at age 72 and died of pneumonia at age 74, much later than most individuals affected by the Paisa mutation.
A woman from the same family, whose cognitive functions remained intact until the age of 70, was previously reported in 2019. Both patients had high levels of amyloid in their brains, but were protected against the Alzheimer’s disease. Francisco Lopera, director of the Antioquia Neuroscience Group in Medellín, Colombia, co-first author of the study, is the neurologist who identified this family and has been following them for 30 years.
“Extraordinary cases like this illustrate how individuals and families affected by Alzheimer’s disease can help advance our understanding of the disease and open up new avenues of discovery,” said Yakeel Quiroz, clinical neuropsychologist and researcher. in neuroimaging, co-lead author of the study, in a communiqué. She said the insights gained from these two cases help guide research into which brain regions should be explored to delay and arrest disease progression.
The scientists then carried out genetic and molecular analyzes to understand what protected this man from Alzheimer’s disease. They discovered a very rare mutation in the RELN gene, which they called Reelin-COLBOS. This mutation appears to increase the function of the reelin protein, produced by the gene. This protein reduces the activation of the tau protein, which plays a key role in Alzheimer’s disease. According to the researchers, this could explain the protection this man enjoyed against neurodegenerative pathology for many years.
What surprises the researchers is that the two patients inherited both the gene responsible for Alzheimer’s disease and another gene that protected them from the symptoms of the disease, according to the journal. ‘Harvard University.
A NEW AREA OF RESEARCH
Although this mutation is extremely rare, understanding its protective mechanism could pave the way for the development of treatments. “Therefore, the solution is to mimic nature by developing therapies that replicate the protective mechanism of these genetic variants in people at risk of developing the disease,” she said.
The team plans to continue their work to identify other patients who appear to be protected within this family affected by early Alzheimer’s disease, as well as to further research into treatments that may arise from their findings.
35 million people affected by ALZHEIMER worldwide
As a reminder, Alzheimer’s disease is a neurodegenerative disease characterized by progressive and irreversible damage to the brain. The loss of nerve cells is slow but inexorable. Symptoms are manifested by problems with memory, the execution of simple gestures, orientation in time and space, as well as cognitive functions.
According to’brain institute, in France, 900,000 people suffer from dementia of the Alzheimer’s type, and worldwide, this figure reaches 35 million. While the occurrence of the disease before the age of 65 is rare, at only 0.5%, its frequency is 2 to 4% after this age. Thereafter, it increases proportionally with age to exceed 15% in people aged 80 and over. This disease affects more and more women, with a prevalence of 1 in 4 women and 1 in 5 men after 85 years.
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