A newly discovered genetic variant may protect against Alzheimer’s disease

A newly discovered genetic variant may protect against Alzheimer’s disease
Protein deposits in diseased brain tissue under a microscope.

Protein deposits in the brain – A newly discovered genetic variant can protect against this. (archive photo) (IMAGO/YAY PHOTOS)
When examining the genome of a patient who died at the age of 74, experts discovered a very rare variant of the so-called Reelin gene. Although the man had an inherited predisposition to Alzheimer’s disease, this genetic mutation protected him Before the onset of the disease, as stated in the journal “Nature Medicine”. The Reelin gene plays an important role in the function and development of brain cells. Thus, the mutation prevented the destructive tau protein from being deposited in the patient’s brain cells. This effect could provide clues about how to stop this process also in other Alzheimer’s patients.

Researchers from institutes around the world worked together on the project. In Germany, Diego SepĂșlveda Valla of the Institute of Neuropathology at the University Hospital Hamburg-Eppendorf (UKE) participated. Sepulveda Vala explained that “the protective effect of the genetic mutation was particularly strong in a key region of the brain for learning and memory processes, neurons in which are usually the first to be damaged during Alzheimer’s disease.” A study is now being conducted on whether and how knowledge about the mutation can be used in a therapeutic approach against Alzheimer’s disease.

A similar disease case had already been investigated in 2019. Here, a genetic variant was identified in another protein that was responsible for the slow progression of the disease. “The fact that there was a second case with a protective genetic variant in addition to the case reported in 2019 suggests that there may be more people who carry mutations that can protect against this disease,” said the UKE researcher.

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


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