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 about the mutation can be used for a therapeutic approach against 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 could be even more people who carry mutations that can protect against 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.