Some people are more likely to develop Alzheimer’s disease if they are carriers of what is called a 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 Columbia and University Hospital Hamburg-Eppendorf.
New genetic variant
In a carrier of the Paisa mutation, they found an unusual disease course for this genetic form of Alzheimer’s disease. The patient developed mild dementia at age 72 and died at age 74 – decades after most people with this mutation developed dementia.
It can be shown that the man is a carrier of a new, rare variant of the alleged Rellen gene. Reelin is a protein that plays a key role in regulating brain cell growth and function. In further studies, the researchers found that this variant of the Reelin gene protects against brain cell destruction by nullifying a central mechanism in the development of Alzheimer’s disease: the deposition of tau protein in nerve cells.
treatment in the future?
The findings could be a future approach to treating Alzheimer’s disease.
“The protective gene variant described in this study opens a new perspective on Reelin and the development of Alzheimer’s disease. The fact that the gene protects against the development of Alzheimer’s disease could form an important basis for future treatment studies,” says co-author, Diego Sepúlveda Valla of the Institute of Neuropathology at the Hospital. Hamburg-Eppendorf University.
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