Autism and conditions on its spectrum are an increasingly common childhood problem. The US CDC (Centers for Disease Control and Prevention) reports that in the US, this type of disorder is diagnosed in approximately 1 in 68 children. The problem is quite serious, as autism spectrum dis orders can lead to difficulties regarding the child's communication, as well as impaired functioning in society.

Doctors are still analysing the causes of autism spectrum disorders. Genetic defects are suspected to be involved in their formation. The PCDH10 gene is considered to be one of the genes that may be linked to autism. Admittedly, it is not yet known exactly how this gene is linked to autistic disorders. However, it has already been noted that its expression occurs within the amygdala in the brain, and abnormalities concerning the functioning of this very structure are considered to be one of the underpinnings of behavioural and social functioning problems in children with autism.

Given the above, it could be hypothesised that medical interventions targeting the PCDH10 gene could theoretically improve the condition of children with autism spectrum disorders. This type of hypothesis formed the basis of a study by researchers at the University of Pennsylvania.

Antituberculosis drug vs. autism treatment

The doctors first decided to find out what effects genetic disorders involving the PCDH10 gene lead to. They conducted their research on mice that lacked one copy of this gene. It turned out that a deficiency of the PCDH10 gene product led to a reduced number of NMDA receptors in the brain in the rodents, resulting in impaired transmission of impulses in neuronal pathways. In addition to the molecular changes, behavioural changes were also observed in the mice, as they exhibited herd dysfunction. Interestingly, when deprived of the function of the same gene, more significant disturbances were observed in male mice (in a way, this translates to the human population - autism spectrum disorders are several times more common in boys).

The findings related to NMDA receptor deficiencies, in turn, formed the basis for attempts to use a drug. Researchers attempted to use a substance in rodents, the action of which leads, among other things, to an increase in the number of NMDA receptors in the brain. The drug was cycloserine, which is an ... an antibiotic for the treatment of tuberculosis or urinary tract infections.

The use of cycloserine in mice led to an improvement in their herd function. Could this drug also produce beneficial results in the human population, in children affected by autistic disorders? At present, this is not yet known, and further research is needed - but the most important thing seems to be that medicine is beginning to understand autism and its causes better and better.