For the first time, mutations in a single gene have been linked to mental illness

Team of This was discovered by doctors specializing in genetics and neurology Mental illness like schizophrenia They are closely associated with mutations in the GRIN2A gene. Scientists believe that identifying this genetic risk factor opens the possibility of designing preventive treatments in the future.

The GRIN2A gene regulates communication between neurons by producing the GluN2A protein. When it works optimally, it enhances the transmission of electrical signals between neurons and facilitates basic processes such as learning, memory, language, and brain development.

In their article published in Molecular psychiatry, Researchers have proven that the genetic mutation reduces the activity of the NMDA receptor, which helps in nerve communication, which increases the risk of mental disorders.

Of the 121 individuals studied, 85 had a GRIN2A variant and 23 of them developed mental illness. These results show that mutation carriers have a much higher risk than those without variations. Furthermore, patients showed severe psychological symptoms, which largely rules out environmental or contextual explanations.

This finding contradicts the general consensus on the polygenic origin of mental disorders. Until now, doctors have considered these diseases to arise from the interaction of multiple factors, including genetics. This study shows for the first time that a mutation in a single gene can decisively affect the development of a mental disorder.

The report also cites previous research that treated NMDA receptor deficiency, caused by GRIN2A mutation, using L-serine, an amino acid. The four schizophrenia patients who participated in the trial showed noticeable improvements: the disappearance of hallucinations, a decrease in paranoid symptoms, and improved behavior after receiving treatment.

Since this trial was conducted before the main study, the authors explained that it cannot be considered a definitive treatment method yet. However, they noted that the effectiveness of L-serine could be confirmed in a randomized, prospective, double-blind clinical trial.

Schizophrenia is still a big mystery

Schizophrenia is a mental illness manifested by delusions, hallucinations, disorganized thinking, language, and behavioral changes and loss of motivation or pleasure. According to the World Health Organization, this disorder affects about 23 million people worldwide, equivalent to 0.29 percent of the world’s population. As for adults, the rate rises to 0.43%, meaning that one in every 233 people is infected with it.

Specialists now have a good understanding of its symptoms and have identified the age groups in which it usually appears. Effective treatments exist, and many risk factors are recognized, including genetics, neurochemistry, and external elements such as stress or substance abuse.

However, science has not identified a single cause and does not fully explain the variation among people at risk. Some people have the disease and others do not, even if both parents are diagnosed with schizophrenia. There is also no clear strategy to prevent its appearance.

This story first appeared on WIRED in Spanish It was translated from Spanish.