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Autism: the new cause of the disease is named
Last reviewed: 31.05.2018
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Previously, the causes of childhood autism were various disorders during childbirth, head trauma, infectious diseases. In addition, there have been hypotheses about congenital dysfunction, or even mental disorder. However, famous Spanish, Japanese and Canadian experts representing the University of Toronto have scientifically proven that every third case of the disease is associated with an acute shortage of a certain protein in the human brain. The results of the studies were published in the periodical Molecular Cell.
This group of experts has already conducted similar studies, during which it was found that in people with autism, the level of the protein nSR100 (also called SRRM4) is significantly reduced. However, there was no direct evidence of protein binding and development of autism at that time.
The fact is that the normal working capacity of brain structures directly depends on the well-coordinated function of a number of protein complexes. For example, the protein compound nSR 100 is responsible for the quality of brain reactions and control over human actions. In patients diagnosed with "autism" in many cases, experts found a clear drawback of this protein compound.
Additionally, scientists conducted a chain of studies on animals, and in particular on rodents. The essence of the experiment was as follows: the brain of mice was artificially deprived of the said protein compound. As a result, typical signs of autism began to appear in rodents: the behavior of mice changed radically, they began to avoid communication with each other, closed and hid from noise - that is, they became socially sensitive.
"Somewhat earlier, we have already suggested that there is a definite connection between the reduced content of nSR 100 and the development of autism. But now we have the opportunity to prove this: indeed, a low percentage of protein can cause pathology, and this is a very important discovery. Already with the lowering of the level of the protein compound by half, we were able to observe the appearance of symptoms characteristic of autism, "Sabin Cordes, the doctor of molecular genetics, representing the research institute of Lünenfeld-Tanenbaum, spoke about the scientific work.
"The main benefit of our work is that the results can radically change the approach to treating the disease, and also explain the influence of other etiological factors on the biology of the nervous system," sums up one of the researchers and authors of the discovery Benjamin Blenkow, who is a professor at the University Toronto.
Earlier in America, similar studies were already conducted, but they were not related to the analysis of protein composition and evaluation of the regulation of alternative splicing - the reaction of protein coding by a single gene. Then the scientists assumed that autism can be associated with the impact of ultrasound during a woman's ultrasound in the first trimester of pregnancy. It should be noted that at that time specialists failed to establish the relationship between the onset of autism and the impact of ultrasound diagnosis.
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