A recent study shows that a single gene may be linked to developing schizophrenia, a severe as well as chronic mental disorder that typically impacts how a person feels, thinks, and behaves. It is commonly said that those who develop schizophrenia have 'lost touch with reality.' Although schizophrenia is typically not as prevalent as other mental disorders, the symptoms of schizophrenia are usually very debilitating. Finding any genetic or even general biological link to the cause of schizophrenia is very critical, due to the fact that it is literally impossible to produce a model of the mental disorder in a living cell.
This study, conducted by a team of researchers from Harvard Medical School, began in 2014, and originally, researchers were able to identify 108 regions in our DNA sequence where specific genetic variants increase a person's risk of developing schizophrenia. Using the data originating from this research, the researchers have now combined this with a genetic analysis gathered from almost 100.000 DNA samples from about 30 countries, as well as brain samples from about 700 deceased patients. Animal models were used along with the other genetic samples and data in order to observe the biological processes that were used to help identify the single gene that must be associated with developing schizophrenia.
The gene the researchers discovered, C4, which is also known as the complement component 4, is known to be involved in the immune system. With the use of the brain samples of those deceased, the postmortem brain samples, researchers were able to determine the number of C4 genes located in one's brain, which varied throughout samples. Based on how long or short their C4 gene was typically determined how active the gene was. One specific variation of this gene, which was not specified to be either long or short, just a particular variation, leads to a higher risk of the ability of the gene to express itself in the person's immune system correlates with the higher risk of adolescents developing schizophrenia. Researchers then tested the connection of the C4 gene to the higher risk of developing schizophrenia, and found that C4 is very involved in the synaptic pruning process that occurs in the brain naturally as the brain matures through childhood, as well as adolescence. It seemed as though the more synapses were cut away, the higher the expression of the C4 gene prevailed.
After analyzing the brain tissues of human patients with schizophrenia, it showed that there were fewer connections between neurons, which just goes further to show that a highly expressed C4 gene in the brain may really be cutting away these neural connections in the brain. Although these recent finds do not indicate any treatments or potential cures, it is the start of what could potentially be a long road to uncovering. I personally think that this is a huge step in addressing schizophrenia, and hope that this means that we are at least on the right track. I am excited to see how scientists use this new information to apply it to further findings. All cures and treatments have to start somewhere, so maybe this is just the beginning.