"The autism gene"

For the first time, a direct link of autism with a certain gene has been found

Svetlana Maslova, Hi-tech+

Scientists have identified a genetic mutation that leads to the most striking symptom of autism – cognitive inflexibility. Probably, it also leads to the development of other mental disorders. Understanding the cause of the disease, scientists will now be able to find targeted therapy options. For the first time, there was a chance to treat such a severe form of mental disorder as autism by activating one gene.

The exact causes of autism spectrum disorders (ASD) have not been determined, but many studies have demonstrated a link between the disease and certain genetic variants. There are works indicating autoimmune and other non-genetic causes. The complex nature of RACES forces scientists to study the probable biological pathways of the disease from different sides.

A group of researchers from Japan has demonstrated that the cause of autism is a histone methylation deficiency resulting from a mutation in the SUV39H2 gene. Their data point to the first direct link between the SUV39H2 gene and ASD.

Article by Balan et al. A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain is published in the journal Molecular Psychiatry – VM.

Methylation of histone proteins determines the level of gene activity. It is their activity – switching on or off throughout life – that can affect the development of various diseases.

For example, genetic changes caused by histone methylation during brain development can lead to serious disorders. One example is Kliefstra syndrome, a rare mental development disorder in which a mutation prevents H3K9 methylation.

Klifstra syndrome has common features with ASD, so scientists began to look for autism-specific gene variants capable of modifying H3K9. As a result, they were able to identify SUV39H2 out of nine candidates.

In experiments on mouse models, it turned out that the absence of SUV39H2 led to a violation of the cognitive flexibility of animals. They could understand the principle of a simple task for cognitive abilities, but when it was necessary to be smart and look at the problem "from a different angle", all rodents had difficulties.

"Cognitive inflexibility is the main symptom of ASD," commented the first author of the article, Shabish Balan. It is noteworthy that in people with ASD, the expression of SUV39H2 is significantly reduced.

It is known that SUV39H2 is expressed in the early stages of the development of the nervous system and methylates H3K9. Without it, a certain group of genes from the protocadregin cluster disrupts the formation of nerve circuits.

This may indicate the identification of an important common biological pathway associated with many disorders of the nervous system, the authors concluded.

Thus, activation of SUV39H2 may be a potential treatment for ASD and other mental disorders. Further research should confirm this.

Portal "Eternal youth" http://vechnayamolodost.ru