Protective mutations
Scientists have identified mutations that protect the brain from the development of Alzheimer's disease
Molecular biologists from the UK have discovered several variations in the structure of genes associated with Alzheimer's disease, which do not increase, but reduce the likelihood of developing this neurodegenerative disease. This was reported on Wednesday by the press service of University College London (Genetic variants reduce risk of Alzheimer's disease – VM).
"These are extremely encouraging results. Variations in genes associated with low activity of tyrosine phosphatase enzymes significantly reduce the likelihood of developing Alzheimer's disease. It is likely that drugs acting on the brain in a similar way will also protect it," said David Curtis, a professor at University College London, whose words are quoted by the university's press service.
Scientists currently suggest that the main sign and possible cause of the development of Alzheimer's disease is the accumulation of so-called beta-amyloid, a pathogenic protein inside brain cells. It is fragments of the APP protein, which plays an important role in the formation of connections between neurons.
For unknown reasons, the processing of old ARP molecules is disrupted in the body of some people. This leads to the accumulation of "scraps" of this protein in the cells and tissues of the brain and the formation of toxic self-multiplying tangles. They gradually kill neurons, which eventually leads to the development of dementia and the death of a person.
Biologists have not yet created or discovered substances capable of safely and effectively destroying beta-amyloid tangles or preventing their formation. Therefore, doctors are actively looking for other ways to slow down Alzheimer's disease, including using gene therapy and using the resources of the body itself.
Healthy brain
Curtis and his colleagues discovered a possible "target" for drugs or gene therapy capable of suppressing Alzheimer's disease by deciphering the DNA of over 10 thousand of its carriers and comparing sets of small mutations in their genes associated with the development of this neurodegenerative disease.
In total, British biologists have studied over a million different variations in genes and assessed their overall "contribution" to the development of the disease. This analysis showed that there is a special category of mutations and related DNA regions, such as the PTPN1 and DUSP6 genes, the appearance of which did not increase, but decreased the likelihood of acquiring Alzheimer's disease in old age.
These genes, as the researchers note, were associated with the activity of tyrosine phosphatases – enzymes that are responsible for removing phosphate molecules attached to certain parts of other protein chains. These substances are especially common in brain cells and play an important role in their vital activity.
The increased activity of tyrosine phosphatases, as British researchers found out, blocks the work of the PI3K/Akt/GSK-3B gene chain responsible for the survival of cells in a stressful situation and their purification from various "protein debris". Accordingly, a decrease in activity can restore the work of this chain and significantly reduce the likelihood of developing Alzheimer's disease, the scientists conclude.
Portal "Eternal youth" http://vechnayamolodost.ru