Researchers at the University of Antioquia in Colombia have reported a Colombian man with a never-before-seen genetic mutation that protected him from symptoms of a hereditary form of Alzheimer’s for 20 years. The patient suffers from an autosomal dominant form of dementia, in which the main factor is the presence of a mutation in one of the three genes. This type of Alzheimer’s disease is most commonly caused by mutations in the PSEN1 gene and is characterized by early onset between the ages of 40 and 50.
However, the man experienced a delay in the disease, despite the mutation in the PSEN1 gene, and he was the only person out of 1200 Colombians with such a unique case. During the study, the patient were discovered widespread beta-amyloid plaques in the brain, which are usually a key symptom of Alzheimer’s disease. However, in the area of the brain that is usually affected by the disease in the early stages, the man had very few tau tangles.
The mechanism of development of Alzheimer’s disease.© ppt-online.org
As shown by genetic sequencing, instead of a common mutation, the patient had a new type of RELN-COLBOS gene. This gene helps the brain make a protein called reelin, which causes neurons to migrate and develop neuroplasticity. Interestingly, the man’s sister was found to have the same mutation and also had a delayed onset of cognitive problems.
Speculation that this particular mutation allows the patient to delay Alzheimer’s disease by 20 years, scientists decided to test it in mice. The animals were injected with a protective variant of the RELN-COLBOS gene, and this actually reduced their tau protein phosphorylation. According to the authors of the study, this discovery fundamentally changes the whole understanding of Alzheimer’s disease and will allow in the future to create new treatments that reduce the production of tau proteins in the brain.
2023-05-16 10:00:11
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