Russian scientists have discovered that a localized mutation in the "PLAU" gene, which is responsible for the migration of newly formed nerve cells and the removal of excess neural connections, leads to the appearance of autism spectrum symptoms in mice.
This discovery allows for the development of new methods for diagnosing and treating this disorder, according to the press service of the Russian Science Foundation.
to autism spectrum disorders, but also succeeded in developing a suitable animal model for studying these disorders and testing new drugs to correct and treat them.
The researchers explained that scientists have long sought to understand the genetic mechanisms behind the development of autism spectrum disorders, particularly the role of different regions of DNA that control the growth, migration, and formation of connections between nerve cells.
To achieve this, researchers rely on inducing random mutations in the targeted genes, and then studying the effect of these changes on the brain structure and behavior of mice.
As part of this research, Russian scientists identified a unique mutation in the PLAU gene, where a change in a single genetic base at its functional location led to a range of behavioral traits associated with autism spectrum disorders. The mice exhibited a tendency towards isolation and impaired social interaction, along with elevated anxiety levels and repetitive behaviors.
The study also showed that this mutation led to an increase in the thickness of the somatosensory cortex, a brain region responsible for processing visual, auditory, and tactile information, a characteristic observed in some individuals with autism spectrum disorders.
In contrast, the researchers noted that mice carrying the mutations showed a better ability to find mazes' exits under stressful conditions, which may be related to an increased ability to focus attention while solving tasks.
Karagiauer noted that the research team intends to continue studying the structure and functions of the brains of these mice at the level of individual cells and neural pathways, stressing that the new genetic model could be used in the future to evaluate the effectiveness of drug prevention methods and correct genetic forms of autism spectrum disorders.
