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We tend to think that depression or schizophrenia are the result of a complex and intricate interplay of hundreds of genes, lifestyle and stress. But what if sometimes the key to the solution is much simpler? A new international study published in Molecular Psychiatry shows that for some people, the root of the problem may lie in a single gene malfunction.
The brain's “call” factory has failed
Scientists at the Leipzig Medical Center looked at a gene called GRIN2A. Think of this gene as the blueprint for producing the all-important “doorbells” in our brains (they're called NMDA receptors). These “doorbells” allow nerve cells to communicate with each other. The researchers studied data from people in whom this “blueprint” was damaged.
It turned out that the most dangerous is the so-called null mutation – this is when the blueprint is so damaged that the “factory” simply stops and stops producing “calls”. People with such a breakdown had an extremely high risk of developing schizophrenia, severe depression and anxiety disorders. And what is important – the first symptoms appeared in them in childhood or adolescence.
An unexpected turn
Previously, it was believed that serious problems with the GRIN2A gene inevitably lead to epilepsy and thinking disorders. But this study brought a surprise: in some patients, the only manifestation of the genetic damage was precisely psychiatric symptoms, without any seizures. This discovery broadens the view of doctors: now it makes sense to test this gene in a teenager with early and severe depression.
A glimmer of hope: is a cure possible?
The most intriguing part of the study is the treatment trial. The scientists gave four patients with this mutation the common amino acid L-serine. It acts as an amplifier for the few “bells” still left in the brain, helping them work more actively. The result was promising – the patients' condition improved markedly.
The authors emphasize that this is just a tiny observation of four people, not a full-fledged proof of effectiveness. Years of large clinical trials lie ahead. But it is the first, albeit small, step towards creating personalized medicine — therapy that targets the specific genetic cause of a disease rather than the symptoms. The discovery gives hope that one day, for some patients, treatment for a mental disorder will begin with a simple genetic test.
