2023-10-06 16:56:07
Alzheimer’s dementia still raises many questions in medicine. To date, neither a cure nor the cause of the disease is fully known. A group of doctors and brain researchers now made it their mission to find out more regarding how the disease develops. It was shown that a rare mutation might potentially protect once morest Alzheimer’s. Francisco Lorepa and his colleagues at the Universidad de Antioquia in Colombia published theirs Study in the specialist magazine Nature Medicine, giving researchers new hope to learn more regarding the disease.
Genetics play a large role in the development of Alzheimer’s disease
As Alzheimer’s dementia progresses, it can be observed that nerve cells gradually die off. This happens via misdirected proteins or pathologically modified cells. What triggers these scenarios is still unclear. However, researchers assume that there must be a certain pre-existing condition in patients.
Genetic factors can promote or even reduce the development of Alzheimer’s disease. The research team examined this in more detail for their study and quickly found what they were looking for, as lead author Lorepa describes: “The genetic variant that we identified suggests that it has a very high level of resistance and protection once morest Alzheimer’s symptoms.” The protective The gene goes by the name APOE3.
For their study, the team examined a patient who has a hereditary predisposition to Alzheimer’s disease, the so-called Paisa mutation. Typically, the life expectancy of such patients is around 60 years. However, the person examined remained symptom-free until he was 70, which is why the researchers assumed that he must also have the APOE3 gene.
The protective gene is particularly rare
In order to be able to prove the protective mechanism of the gene in question, the research team examined around 1,200 people, some of whom carried the Paisa gene. Only one of these patients had the APOE3 mutation.
He had also already turned 67 without showing any signs of Alzheimer’s disease. It was only during the course of the study that the first neurological deficits were discovered in him at the age of 73.
The researchers describe being impressed by the rarity of this gene: “Extraordinary cases like this illustrate how individuals and extended families with Alzheimer’s disease can help improve our understanding of the disease and open new avenues for research.”
After the patient died, scientists were allowed to continue studying his brain. This allowed them to prove that APO3 provides protection once morest Alzheimer’s. Because it interrupts the signaling pathway of proteins that cause nerve cells to die.
Now the scientists hope that their collected results might provide a basis for further research: “The findings can give us clues as to where we need to start in the brain in order to delay or even stop the progression of the disease. And they will help us to form new hypotheses regarding the sequence of steps that actually lead to Alzheimer’s dementia.” Further studies should prove the protective mechanism in a treatment.
picture of Gerd Altmann on Pixabay
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