Schizophrenia: Singular Disease or Cluster of Syndromes?

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Schizophrenia is actually a cluster of eight distinct genetically based abnormalities, according to recent research that offers new hope for understanding both how and why the disease may manifest itself and how it may one day be cured.

Schizophrenia has been a poorly understood illness for a long time. Freud viewed it as the result of a breakdown of all of a person’s neurotic defenses, allowing their “id” (the hypothesized mental repository of one’s primal and often conflicting urges and impulses) to run amok. And for some time, it was conjectured that extreme emotional trauma during early rearing — especially the infant’s experience of “mixed” communications of love and hate from the mother — was at the root of the disorder. But evidence mounted quickly, primarily from studies of identical twins reared in different environments, for a genetic predisposition to schizophrenia. With the advent of psychotropic drugs that demonstrated a remarkable ability to temper the illness’s symptoms — and in the process, allowing many chronically institutionalized patients to leave confinement and lead much more normal and productive lives — the role that imbalances of certain neurotransmitters in the brain play in the disease became strikingly evident. So throughout most of the modern era, schizophrenia has been largely regarded as a brain disorder. While it’s long been recognized that the disease can manifest itself in some uniquely different ways — such as catatonia, paranoid ideation, disorganized thinking, blunted emotions, etc. — most clinicians and researchers have always regarded it as a distinct disease. But that perspective is likely to be changing soon as a result of some very recent research suggesting that schizophrenia might not be a singular disorder at all but rather a variable grouping of eight different genetically based abnormalities.

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In a study recently published in the American Journal of Psychiatry, researchers predominantly affiliated with the Washington University School of Medicine examined the DNA of thousands of individuals diagnosed with schizophrenia, comparing it to the DNA of an almost equal number of individuals with no known history of the disease. Instead of focusing on unraveling a specific gene sequence, the researchers took a broader approach, looking at various gene clusters among the two groups. They also grouped the schizophrenia subjects by the kinds of symptoms they presented and the severity of those symptoms, looking for specific genetic profiles.

One significant finding the researchers uncovered was that the disorganized behavior and irregular speech patterns commonly seen in schizophrenia were linked to a particular group of DNA variations and that those variations also produced a 100 percent risk of schizophrenia in the affected person. They found other specific genetic variations to be linked to those subjects with a history of delusions. (A delusion is a false belief held with conviction and with no appreciation for its irrationality.) Eventually, the researchers were able to find enough links between various groups of genetic variations and certain symptoms that they felt confident in reporting that the various manifestations of schizophrenia, both in type and intensity, are actually the result of eight distinct genetically based abnormalities.

While the recent findings on the genetic contributors to schizophrenia are both exciting and encouraging, there’s still a lot of research to be done. There’s a lot about schizophrenia and its genetic underpinnings we don’t yet understand. DNA research is a complex and often confusing undertaking. Perhaps the most perplexing aspect of such research is the fact that genes don’t operate in a vacuum. Folks can be known to have certain genetic abnormalities or “markers” that put them at risk for a particular disease but for some reason or reasons still unknown don’t become afflicted with the illness. Genes always operate in particular biological “environments” and those internal environments have a lot to say about whether the gene is ever fully expressed. External environmental factors such as stress and trauma also play a role. As the senior researcher for the above study, Dr. C. Robert Cloninger, was quoted in Newsweek, “genes don’t operate by themselves. They function in concert much like an orchestra, and to understand how they’re working, you have to know not just who the members of that orchestra are but how they interact.” So, despite the strong clues we’ve been getting lately about the role of gene abnormalities in schizophrenia, there’s much left to learn.

Perhaps the two biggest contributions the research of Dr. Cloninger and his colleagues have made to the drive to conquer schizophrenia will be an enhanced ability of medical workers to identify the various genetic factors placing a person at risk for the disease and some keys to developing new strategies to possibly prevent the manifestation of symptoms of the disease in a person identified as genetically at risk. Now that we know we’re really dealing with a cluster of syndromes associated with different groups of genetic abnormalities, the pathways for further exploration with the potential for big payoffs have been fairly well identified. This is welcome news considering how little we still understand about this illusive and debilitating illness. While we have made great strides in our ability to manage its symptoms, there’s still no cure for schizophrenia. Perhaps as we learn more about the genetic predispositions to the disease and the nature of the relationship between those genetic factors and the internal and external environmental factors that determine when, how, and to what degree the disease will manifest itself, we’ll not only uncover better ways to control its symptoms but also hasten the day we finally find the cure.

All clinical material on this site is peer reviewed by one or more clinical psychologists or other qualified mental health professionals. This specific article was originally published by on and was last reviewed or updated by Dr Greg Mulhauser, Managing Editor on .

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