Belgian researchers at KU Leuven have highlighted the central role of a gene involved in the acceleration of the pathological processes of Alzheimer’s disease. The results have the potential to help improve targeted treatments.
According to the Stop Alzheimer Foundation, which funded the project, this represents a "major breakthrough" in research on hereditary forms of this degenerative disease.
The team of scientists, led by Professor Wim Annaert, demonstrated that mutations in the PSEN2 gene worsen the disease through two mechanisms.
First, these mutations increase the formation of toxic amyloid plaques (also known as senile plaques) in the brain, causing dysfunction in neural connections.
Second, they promote the failure of the cellular recycling system, leading to damage and reduced communication ability among brain cells.
This "double attack" directly disrupts synapses, the vital connections between neurones, thereby exacerbating the memory loss and cognitive decline characteristic of Alzheimer’s.
The results, published in the journal Nature Communications, pave the way for targeted treatments against the disease, which affects millions worldwide, according to Professor Annaert.
Anika Perdok, the study’s lead author, believes the research "opens valuable prospects for slowing the progression of the disease in patients with familial Alzheimer’s."
