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Trying to Unlock the Secrets of Schizophrenia

By Dina Al Qassar, NAMI Intern


Schizophrenia continues to confound the minds of scientists and researchers alike. Affecting 1 percent of the human population, the culprit behind this illness is still unknown. There has been research investigating the causes of schizophrenia, and although scientists have known that it runs in families there isn’t any evidence indicating that the causes are purely genetic. The belief is that both genetic and environmental factors play equal parts in the development of schizophrenia.

There have been speculations about the causes, including but not limited to: prenatal factors (viral infections during the pregnancy, malnourishment, stress); environment factors (emotional, physical, or sexual abuse); abnormalities in the brain structure (irregularities in the size of the prefrontal and temporal lobes), neurotransmitter imbalances (high levels of dopamine and low levels of serotonin), etc… yet there aren’t any definite links between a single factor and the disease.

Due to the unique nature of schizophrenia it is very hard to find the causes of the illness. Recently however, a significant pattern emerged between schizophrenia and inheritance that was revealed by looking at the way schizophrenia is more prevalent in some families; this spurred the genetic investigation of the matter.

According to Dr. Francis Collins, the director of the National Institutes of Health (NIH), in his blog post from Jan. 28, “Exploring the Complex Genetics of Schizophrenia,” new developments in DNA sequences technology have allowed scientists to look at the “actual DNA sequence of the protein-coding region of the entire genome for thousands of individuals with schizophrenia.” This would then give further insight into the nature of the genetic variations and if there is a direct relationship between these genetic mutations and the illness.

Studies have shown that people with schizophrenia display the highest rate of genetic mutations; however, scientists aren’t sure whether these mutations cause the illness or simply increase the risk of it. As a result during the past five years, a research initiative known as the Genome-Wide Association Study (GWAS), has attempted to look for clues that would lead to a genetic link to schizophrenia. The GWAS research identified certain links between some genetic variation and the increased risk of schizophrenia. Nonetheless, these individual genetic variations are too weak and vague to suggest a causational relationship between genes and schizophrenia.

As Dr. Collins notes, a few studies conducted by Broad Institute of MIT and Harvard, Cambridge, Massachusetts  and the Icahn School of Medicine at Mount Sinai in New York,  looked at a specific part of the DNA of someone with schizophrenia. Despite the fact that this research yielded more results then the GWAS study, such as specific mutations in the sequence of the DNA called point mutations, the researchers were unable to find a single genetic mutation that caused schizophrenia. Nevertheless, the research did show that people living with schizophrenia showed certain mutations in their DNA that were linked to the functioning of their central nervous system, and thereby affecting neuron communications.

These findings and the research into the link between genetics and schizophrenia provide a hopeful outlook for those battling schizophrenia, their families and the future generations. By looking at the genetic link it may be able to provide more information about the nature of the illness and its relationship with other mental illness. This would not only give insight into the nature of schizophrenia but other illnesses as well. Furthermore, the genetic research would hopefully help scientists and researchers find ways to facilitate early intervention and eventually prevention. Although scientists might not be able to find a single gene causing schizophrenia yet, the findings of the research are promising and they might pave the way for further research and discoveries that would improve treatment and therapy.

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