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Autism: a new cause of the condition has been identified
Last reviewed: 02.07.2025
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Previously, various birth defects, head injuries, and infectious diseases were considered to be the causes of childhood autism. In addition, hypotheses were put forward regarding a congenital disorder of brain function, or even a mental disorder. However, renowned Spanish, Japanese, and Canadian specialists representing the University of Toronto have scientifically proven that every third case of the disease is associated with an acute deficiency of a certain protein in the human brain. The results of the research were published in the periodical Molecular Cell.
This group of experts had already conducted similar studies, which found that people with autism had significantly lower levels of the protein nSR100 (also known as SRRM4). However, at that time, no direct evidence was obtained linking the protein and the development of autism.
The fact is that the normal performance of brain structures directly depends on the 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, specialists have found a clear deficiency of this protein compound in many cases.
In addition, the scientists conducted a series 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 specified protein compound. As a result, the rodents began to show typical signs of autism: the behavior of the mice changed dramatically, they began to avoid communicating with each other, withdrew and hid from noise - that is, they became socially sensitive.
"We had previously suggested that there is a certain connection between a low level of nSR 100 and the development of autism. But now we have the opportunity to prove it: indeed, a low percentage of protein can cause pathology, and this is a very important discovery. Even with a reduction in the level of the protein compound by half, we were able to observe the appearance of symptoms characteristic of autism," said Dr. Sabine Cordes, a molecular geneticist from the Lunenfeld-Tanenbaum Research Institute, about the scientific work.
“The main benefit of our work is that the results obtained may fundamentally change the approach to treating the disease, as well as explain the influence of other etiological factors on the biology of the nervous system,” concludes one of the researchers and authors of the discovery, Benjamin Blencowe, who is a professor at the University of Toronto.
Similar studies had been conducted in America before, but they were not related to protein composition analysis and assessment of alternative splicing regulation – the reaction of protein coding by one gene. At that time, scientists assumed that autism could be associated with the impact of ultrasound during a woman’s ultrasound examination in the first trimester of pregnancy. It should be noted that at that time, specialists failed to establish a connection between the occurrence of autism and the impact of ultrasound diagnostics.
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