Mutations in the Colombian woman's genes have allowed scientists to take a new look at the treatment of Alzheimer's disease

An international group of researchers from the United States, Britain, Colombia, and Sweden analyzed data from more than 1,200 Colombians carrying a mutation in a gene associated with the development of Alzheimer's disease, hoping to find a way to slow down the disease. As a result, experts found one patient who had two mutations at once: one of them accelerates the onset of the disease, the second-postpones. Due to this combination, cognitive impairment in women developed 30 years later than in carriers of only the first mutation. The case is described in Nature.

According to the authors, the patient was in her 70s and maintained a clear mind and good overall health. At the same time, she still had small cognitive impairment.

Researchers scanned the patient's brain for the presence of beta-amyloid and Tau proteins— their excessive accumulation "portends" the onset of Alzheimer's disease. The analysis showed that there was a high concentration of beta-amyloid in the brain, but not Tau proteins. Experts focused on finding the mechanisms responsible for the aggregation of the latter.

They sequenced the patient's genome and found that the woman is not only a carrier of a gene that accelerates the development of the neurodegenerative disease but also two copies of a "protective" mutation called APOECh. This mutation affects the АРОЕ gene, which is known to bind to receptors on the cell surface and cause Tau to be absorbed from the outside, which enhances intracellular aggregation. The APOECh mutant binds to these receptors weaker, which allows, according to scientists, the cells do not absorb Tau and do not die.

The authors tried to replicate this effect by injecting antibodies to areas of the АРОЕ that bound to nerve cells. In the presence of antibodies, АРОЕ proteins interacted with receptors much worse. Such a mechanism, the researchers say, could be a new direction in the search for treatments for Alzheimer's disease.

Nov. 5, 2019, 12:13 p.m.

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