Schizophrenia is a psychotic disorder characterized by delusions, hallucinations, difficulties in social situations, and a variety of mood swings. Treated with antipsychotics that “dampen only the most overt symptoms, such as delusions and hallucinations” (Balter, 2017), it is thought that these drugs only “cause serious side effects and do little or nothing for chronic symptoms such as social withdrawal and cognitive deficits.” (Balter, 2017) Why is this? Why are doctors treating schizophrenia with drugs that have intense side effects and have little to no effect on other symptoms? Because science has yet to lead researchers there.
It all comes down to genetics. It is unknown what genes are affected in the case of schizophrenia- if it is many or just one single mutation. It is incredibly hard to detect which genes are being mutated because of the different ranges of symptoms in patients, lack of research, and inability to gather enough patients to test. However, a breakthrough in research occurred in July of 2014, when psychiatric geneticist Michael O’ Donovan launched a massive study with over 113,000 patients. In the end, the study identified 108 genetic regions linked to schizophrenia and led researchers to understand what brain-signaling regions of the brain that antipsychotics are targeting. This was a big step for researchers, as they began to believe that they were on the right track.
Later, another study took place by Steven McCarroll, a geneticist at Broad Institute of Harvard University and the Massachusetts Institute of Technology. His study focused on a specific genetic mutation in the C4 gene, but another roadblock came with this discovery. Each patient has a different number of genes and all vary in length, so targeting the variations of gene sizes and numbers is highly difficult. The team then compared the brains of deceased and living patients with the control (undiseased) brains and found that those suffering from schizophrenia produce more of the C4 gene. Naturally, the researchers turned to mouse brains and found that the protein involved in the production of the C4 gene is involved in “pruning” neural connections, meaning that this gene removes synapses. With the depletion in synapses, nerve cells are unable to send signals, or connections, to other parts of the brain that release the necessary chemicals for brain function. Schizophrenia is normally diagnosed in the late teens to early adulthood- crucial years for brain development. With this removal of synapses via the protein in the C4 gene, the brain is unable to mend or make those connections. Therefore, brain development is stunted and a whole other list of issues follows.
These studies, like many others, gave hope to psychiatric geneticists. Finally there was a start to understanding schizophrenia on a genetic level, but it only lead to more obstacles. The C4 gene populates the schizophrenic brain on a high level, so it only proved to be more difficult for psychiatrists and neurologists to understand the best course of therapy for patients. Another issue was the fact that in both of these studies, the control subjects also carry the C4 gene on a lower scale. But it is still present. So what was going wrong with the C4 gene in the brains of schizophrenia patients? Scientists have yet to find out.
A big issue with research on psychiatric disorders is the more they find out, the more questions they have. Because each case of schizophrenia is very different from the other, it is difficult to pinpoint the best form of therapy and which way they should lead toward when it comes to medication creation and assignment. Because schizophrenia is a group of disorders all wrapped in one, it is even more difficult to understand what medication will do to the other, underlying symptoms, such as anxiety, depression, or social isolation. Science is advancing at an incredible scale, as is psychiatric research. Small but monumental studies like these are what will change the future of schizophrenia treatment.
Citation: Balter, Michael. “Schizophrenia’s Unyielded Mysteries. ”Https://Web.b.ebscohost.com/Scirc/Detail/Detail?Vid=0&Sid=fd45e999-b898-4e43-886a610435d3d8cd%40sessionmgr101&Bdata=JnNpdGU9c2NpcmMtbGl2ZQ%3d%3d#, Scientific American Journal, May 2017