Scientists have announced a breakthrough in schizophrenia research: for the first time, a gene has been discovered that is uniquely associated with the development of this complex mental illness. The discovery is reported in the journal Nature.
In recent years, science has collected a lot of information about the biological roots of schizophrenia - the role of gene mutations, the immune system and the microbiome in the development of the disease. A group of researchers from the United States managed to find a variant of the gene in schizophrenics, the action of which explains all these phenomena.
Geneticists and psychiatrists have collected a huge database of 65 thousand people from 30 countries and began to look for gene mutations with the strongest link to schizophrenia. One of the candidates was the C4 gene variant.
This gene is known to be responsible for the production of a protein that marks pathogens for further destruction by the immune system. However, C4 is also used in synaptic pruning, the removal of redundant connections in the brain to reinforce the most commonly used pathways. Pruning occurs during puberty.
Experiments in mice have shown that increased expression of C4 results in more intense "trimming" of synapses. This is what scientists believe increases the likelihood of developing schizophrenia. It is noted that the symptoms of schizophrenia begin to manifest themselves in adolescence. The new hypothesis is also confirmed by the fact that there are relatively few synapses in the cerebral cortex in adult patients. It is likely that abnormal C4 expression affects the immune system of those with schizophrenia.
The new discovery gave doctors the hope of creating a more effective drug for the treatment and even prevention of schizophrenia (by preventing excessive synaptic pruning). Modern drugs are mainly aimed at relieving the symptoms of the disease - delusions and hallucinations.
Experts are increasingly expressing the opinion that schizophrenia is not a disease, but a syndrome - a code word that provides communication between psychiatrists, patients and scientists. The variety of symptoms has given rise to controversy about whether schizophrenia is a single disease or is a diagnosis behind which lies a number of separate syndromes. All previous attempts to find a genetic basis for schizophrenia have ended in failure.
