“Newly discovered gene variant could protect against Alzheimer’s protein deposits”

2023-05-20 05:22:42

Protein deposits in the brain – a newly discovered gene variant might protect once morest this. (Archive image) (IMAGO/YAY Images)

When examining the genome of a patient who died at the age of 74, the experts discovered a very rare variant of the so-called reelin gene. Although the man had an inherited predisposition to Alzheimer’s, this gene mutation protected him before the onset of the disease, as stated in the journal “nature medicine”. The Reelin gene plays an important role in brain cell function and development. The mutation has thus prevented the deposition of the destructive tau protein in the patient’s brain cells. This effect might provide clues as to how this process can also be stopped in other Alzheimer’s patients.

Researchers from institutes around the world worked together on the project. In Germany, Diego Sepulveda-Falla from the Institute for Neuropathology at the University Hospital Hamburg-Eppendorf (UKE) was involved. “The protective effect of the gene mutation was particularly strong in a key region of the brain for learning processes and memory, the nerve cells of which are usually the first to be damaged in the course of Alzheimer’s disease,” explained Sepulveda-Falla. Research is now to be carried out into whether and how the knowledge regarding the mutation can be used for a therapeutic approach once morest Alzheimer’s.

A similar case of illness had already been investigated in 2019. Here, a genetic variant was identified in another protein that was responsible for the slower progression of the disease. “The fact that there is a second case with a protective gene variant in addition to the case reported in 2019 indicates that there might be even more people who carry mutations that can protect once morest this disease,” said the UKE researcher.

Alzheimer’s disease leads to a breakdown of the nerve cells in the brain and thus to a decrease in the abilities of the patient. The clinical picture includes memory and orientation disorders, speech disorders, disorders of thinking and judgment as well as personality changes.

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