2023-05-17 12:06:11
Some people have a higher risk of developing Alzheimer’s if they are carriers of the so-called Paisa mutation. However, a newly discovered mutation in another gene can ensure that the disease does not occur or occurs later than usual. This has now been discovered by researchers from Harvard Medical School, the University of Antioquia in Colombia and the University Hospital Hamburg-Eppendorf.
Novel gene variant
In a carrier of the Paisa mutation, they found an unusual course of the disease for this genetic form of Alzheimer’s. The patient developed mild dementia at age 72 and died at age 74 – decades after most people with this mutation typically develop dementia.
It could be shown that the man carries a new, rare variant of the so-called Reelin gene. Reelin is a protein that plays a central role in regulating brain cell development and function. In further studies, the researchers found that this Reelin gene variant protects against the destruction of brain cells by counteracting a central mechanism in the development of Alzheimer’s: the deposition of the tau protein in nerve cells.
Future therapy?
The findings could be a future approach to treating Alzheimer’s.
“The protective gene variant described in this study opens up a new perspective on the Reelin protein and the development of Alzheimer’s disease. The fact that a gene protects against the development of Alzheimer’s disease can form an important basis for future therapy studies “, says the researcher involved, Diego Sepulveda-Falla from the Institute for Neuropathology at the University Hospital Hamburg-Eppendorf.
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