Damn dozen
Scientists have found 13 previously unknown mutations associated with Alzheimer's disease
These are quite rare mutations that are difficult to detect during a routine genetic study.
American geneticists have identified 13 previously unknown rare mutations that are associated with the development of Alzheimer's disease. The description of the study was published Alzheimer's & Dementia Magazine
An uncensored but complete version of the article by Prokopenko et al. Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development can be read on the medRxiv–VM website.
Scientists suggest that the main sign and possible cause of Alzheimer's disease is the accumulation of pathogenic beta–amyloid protein in brain cells. In the body, it is formed from a precursor protein (amyloid precursor protein, APP), which plays an important role in the formation of connections between neurons.
For unknown reasons, in the body of some people, the processing of old ARP molecules is disrupted. As a result, the "pruning" of this protein accumulates in the cells and tissues of the brain and forms toxic self-multiplying tangles. They gradually kill neurons, as a result of which the patient develops dementia and subsequently dies.
In recent years, scientists have found dozens of genetic factors that increase the likelihood of Alzheimer's disease. The most serious of them is the E4 variation in the APOE gene. If a person has two copies of this mutation, the risk of Alzheimer's disease increases by 15 times.
Previously, scientists tried to find the most common mutations, but now they suggest that Alzheimer's disease may be associated with fairly rare variations in the structure of genes that traditional genetic studies cannot detect.
Harvard University professor Rudolf Tanci and his colleagues tried to solve this problem. In the course of the new study, they completely deciphered the DNA of more than two thousand carriers of Alzheimer's disease and their relatives, as well as almost 1.7 thousand people who were not related to each other.
By comparing sets of rare mutations in their DNA, geneticists identified 13 rare variations in the structure of genes associated with the development of Alzheimer's disease. Many of the genes in which these mutations were found are responsible for the formation of new synapses, the growth of neurons, and also control their plasticity.
According to Tansy, in the near future his team plans to study the effect of these mutations on the work of nerve cells and the entire nervous system as a whole by introducing similar DNA variations into the genome of stem cells and growing miniature brain likenesses from them. Scientists hope that this will bring humanity closer to the creation of the first effective drugs for Alzheimer's disease.
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