“New Study Identifies Gene Variant That Could Protect Against Alzheimer’s Disease”

2023-05-18 20:20:00

Hamburg (epd). In an international study, researchers at the University Medical Center Hamburg-Eppendorf (UKE) have identified a gene variant that could protect against Alzheimer’s. “This is an important step in the treatment of Alzheimer’s dementia, for which there is currently no cure,” said Diego Sepulveda-Falla from the UKE’s Institute of Neuropathology.

The fact that a gene counteracts the development of Alzheimer’s disease could be a possible starting point for future drugs and therapies against the disease. A cell-specific gene therapy is conceivable. “It may be a long way off, but we’ve learned where to aim,” said Sepulveda-Falla.

The research project of the UKE, Harvard Medical School, the University of Antioquia in Colombia and other institutions discovered a very rare variant of the so-called reelin gene when examining the genetic material of a patient who died at the age of 74. “Despite his hereditary predisposition, this has kept him from developing Alzheimer’s for decades,” said the UKE researcher.

Rare mutation prevents deposits

The Reelin gene plays an important role in the function and development of brain cells. The mutation has thus prevented the deposition of the destructive tau protein in the patient’s brain cells. This effect could provide clues as to how this process can also be stopped in other Alzheimer’s patients.

“This protective effect was particularly strong in a key region of the brain for learning processes and memory, whose nerve cells are usually the first to be damaged in the course of Alzheimer’s disease,” Sepulveda-Falla explained. Research is now to be continued into whether and how the knowledge about the mutation can be used for a therapeutic approach against Alzheimer’s.

Gives more protective gene variant

A similar case of illness was examined 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. The study results were published in the journal “Nature Medicine”.

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. It is named after the German neurologist Alois Alzheimer (1864-1915), who first scientifically described the disease in 1906. In its most common form, it occurs in people over the age of 65 and is characterized by progressive dementia. The clinical picture includes memory and orientation disorders, speech disorders, disorders of thinking and judgment as well as personality changes.