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Schizophrenia May Be Caused By Genetic Mutations

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“Schizophrenia cannot be understood without understanding despair.”

The Scottish psychiatrist R.D. Laing’s words are as apt as they are succinct. 20% to 40% of men and women diagnosed with schizophrenia are so tortured by their condition, that they attempt suicide. 5% to 13% complete the act.

But as the scientific battle against this devastating disorder presses on, researchers are learning even more about the genetic source of the disease.

Earlier this year, a Cardiff study on schizophrenia published in Nature Genetics detailed the genetic links of the illness to 22 different locations in the human genome. Now, new findings from Columbia University Medical Center published in the journal Neuron indicate that genetic mutations and a gene called SETD1A may play a significant role in the development of this illness.

Schizophrenia – a disabling brain disorder – causes a severely altered perception of reality in the afflicted. Sufferers experience delusions, hallucinations, abnormal thought processes, and sometimes involuntary bodily movements. Nonexistent disembodied voices might sound as real to a schizophrenic as the embedded video playing on this page does to you (unless you’ve muted it, of course).

The condition commonly presents between ages 16 and 30 – often requiring that family members step up and double as caretakers.

While the specific cause of schizophrenia isn’t known, it has been established as hereditary.

And from the 1% of the general population affected by schizophrenia, 10% of those individuals have an immediate family member with the condition. Thus, the recent Columbia University study performed by Dr. Joseph Gogos, Dr. Karayiorgou, and their research team, looked at 231 comparative cases between patients and their parents (who did not have the condition). In studying the protein coding parts of their respective genomes, it was noted that something called loss-of-function mutations (rare mutations that are potentially detrimental to regular gene function) were happening in excess in a variety of genes across different chromosomes.

As Dr. Karayiorgou describes, “These mutations are important signposts toward identifying the genes involved in schizophrenia”

The revelation that two of these loss-of-function mutations took place in a gene called SETD1A indicated that the SETD1A gene plays a big role in the development of schizophrenia. What that gene does is aid in a vital process our cells perform called chromatin modification (squashing down DNA so it can fit inside our cells and do its job – regulating gene expression). Reportedly, existing research already suggests that damage to genes like these commonly occurs in other psychiatric and neurodevelopmental disorders. So the idea that SETD1A plays a role in schizophrenia too, seems likely.

So, what do the findings mean?

Identifying a specific genetic mechanism like this could mean early enough detection of schizophrenia (and thus earlier treatment). According to Dr. Gogos, “A clinical implication of this finding is the possibility of using the number and severity of mutations involved in chromatin regulation as a way to identify children at risk of developing schizophrenia and other neurodevelopmental disorders.” The team intends to perform further DNA sequencing studies in hopes of discovering more genes related to schizophrenia. Of the possible medical interventions Dr. Gogos foresees from this research, he says:

“Exploring ways to reverse alterations in chromatic modification and restore gene expression may be an effective path toward treatment.”

In the meantime, we all can perform a social treatment of our own: compassion toward those suffering. I can do as much reading as I like – but I (like most of us) can only suppose what it must be like to live with the condition. If you’d like to learn more about the reality of schizophrenia firsthand, feel free to peruse the online blog of a person actually experiencing it:

Image via Wikipedia

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