New Genetic Mutations Offer Insight Into Possible Schizophrenia Causes

In a recent study, the blood samples were collected and examined in order to compare the DNA of 623 people with schizophrenia and their parents.  This research, performed by the collective efforts of the Icahn School of Medicine and the Broad Institute of the Massachusetts Institute of Technology, with additional help from Harvard University and Cambridge University, has offered us all more insight into the possible causes and contributing factors that lead to a diagnosis of schizophrenia.

What The Study Discovered

The study found that there are what are called “de novo” mutations.  “De novo” is a Latin phrase meaning “afresh, from the beginning, new,” which refers to the fact that these mutations are occurring the offspring of parents who do not feature these genetic mutations.  Without a doubt, this further gives us confidence that genetics play a large role in the development of schizophrenia.  These mutated genes can trigger the development of this mental health disorder, but indirectly, because what they are really doing is disrupting the proper functioning of certain protein clusters that are needed for proper brain activity related to those proteins.  Specifically, these proteins are involved in pathways in the brain that help modulate and control the amplitude of connections between specific nerve cells.  What is affected in general is brain development, memory, learning, and overall cognition.  If dendrite connections are inhibited or overactive, then the entire process can be thrown off.

 The Impact of the Study

This study’s most important result is the building of confidence that these neural pathways are a contributing cause of schizophrenia.  This, in addition to prior studies involving the same concept, have converged and pointed at a very important set of core brain processes that are implicated in affecting those dealing with schizophrenia.  Interestingly, these same issues are an overlap with other disorders that involve neurodevelopment, such as autism.

Professor Mick O’Donovan, who helped lead the research, has stated that:

“We need research that takes into account genetics, cognitive science, imaging and other sources of information rather than relying solely on clinical definitions for psychiatric disorders.”

Professor Hugh Perry, the Chair of the MRC Neurosciences and Mental Health Board has suggested that this understand will ultimately lead to safer and more effective treatments for schizophrenia patients. By unraveling the sheer complexity of such disorders, treatments can stop being analogous to casting a wide net and hoping to catch symptoms.  They can be targeted and qualified.