For the first time, mutations in a single gene have been linked to mental illness
A team of Doctors specializing in genetics and neurology discovered that mental illnesses such as schizophrenia are closely related to mutations in the GRIN2A gene. Scientists believe that the identification of this genetic risk factor opens up the possibility of designing preventive treatments in the future.
The GRIN2A gene regulates communication between neurons by producing the GluN2A protein. When functioning optimally, it promotes the transmission of electrical signals between nerve cells and facilitates essential processes such as learning, memory, language, and brain development.
In their paper published in Molecular Psychiatry, The researchers showed that the gene mutation reduces the activity of the NMDA receptor, which helps in nerve communication, thereby increasing the risk of developing mental disorders.
Out of 121 people studied, 85 people had the GRIN2A type and 23 of them were diagnosed with mental illness. These results show that mutation carriers have a much higher risk compared to carriers without mutations. In addition, the patients displayed purely psychiatric symptoms that largely rule out an environmental or contextual explanation.
This finding contradicts the general consensus regarding the polygenic origin of mental disorders. Until now, doctors believed that these diseases are caused by the interaction of several factors, including genetic factors. This study shows for the first time that a mutation in a gene can definitively affect the development of a mental disorder.
The report also points to previous research that treated NMDA receptor deficiency caused by GRIN2A mutations with L-serine, an amino acid. Four schizophrenic patients who participated in the trial showed significant improvements: disappearance of hallucinations, improvement in paranoia symptoms, and improvement in behavior after receiving treatment.
Because this trial was conducted before the main study, the authors explain that it cannot yet be considered a definitive treatment. However, they note that the effectiveness of L-serine could be confirmed in a randomized, prospective, double-blind clinical trial.
Schizophrenia remains a great mystery
Schizophrenia is a mental illness characterized by delusions, hallucinations, disordered thinking and language, behavioral changes, and loss of motivation or pleasure. According to the World Health Organization (WHO), this disorder affects about 23 million people worldwide, which is equivalent to 0.29% of the world’s population. In adults, this rate increases to 0.43 percent, which means that one in 233 people will have it.
Experts now have a good understanding of its symptoms and have identified the age range in which it usually appears. There are effective treatments and several known risk factors, including genetics, neurochemistry, and external factors such as stress or drug use.
However, science has not identified a single cause or fully explained the variation among individuals at risk. Some people get it and others don’t, even if both parents have been diagnosed with schizophrenia. There is also no clear strategy to prevent it from starting.
This story first appeared on WIRED en Español and has been translated from Spanish.
