Belgian researchers from KULeuven have highlighted the central role of PSEN2, a hitherto little-known gene, in accelerating the pathological processes of Alzheimer’s disease. This is a “major advance” in the field of research into hereditary forms of this degenerative disease, the Stop Alzheimer Foundation, which financed the project, argued in a press release on Tuesday.
The team of scientists, led by Professor Wim Annaert, showed that mutations in the PSEN2 gene worsen the disease by two mechanisms. First, these mutations increase the formation of toxic amyloid plaques (also called senile plaques) in the brain, which causes the connections between neurons to malfunction. Second, they promote the failure of the cellular recycling system. “Brain cells, overloaded by waste that they are no longer able to eliminate, then suffer damage and lose their ability to communicate effectively,” we explain.
This “double attack” directly disrupts synapses, the vital connections between neurons, thus exacerbating memory loss and cognitive decline, characteristic of Alzheimer’s disease.
This work, the results of which were published in the journal Nature Communications, makes it possible to consider targeted treatments against this disease which affects millions of people around the world, according to Professor Wim Annaert. Her colleague and first author of the study, Anika Perdok, believes that the research “opens valuable perspectives for slowing the progression of the disease in patients with familial Alzheimer’s”.
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