New Gene Findings Unravel the Mystery of Schizophrenia

Schizophrenia is a chronic and severe neurological brain disorder which can gravely affect a person’s functioning at many different levels. According to the National Institute of Mental Health (NIMH), about 2.6 million Americans are affected by the illness whose debilitating challenges are often extended to their families.

What makes the disease so complex is its underlying etiology confounded by both genetic and environmental factors. Although the illness is understood to be highly hereditary, many aspects of its pathophysiology remains largely unknown or poorly understood despite extensive research being conducted ongoing.

It has long been established that the pathogenesis of schizophrenia is linked to the dysfunction of the dopaminergic neurotransmitter system which leads to a reduced dopamine concentration in cortical regions responsible for executive functioning.


The dopamine hypothesis, however, does not provide the neurobiological basis for the illness in terms of how specific genes or gene variations might lead to certain brain abnormalities seen in schizophrenia.

A new groundbreaking study conducted by researchers at the Broad Institute of MIT and Harvard may very well have some answers to this dilemma, shedding further light on how pruning of synapses in the brain can affect the development of schizophrenia at a molecular level (Healy, 2016).

Scientists are claiming that pruning is a necessary and requisite process for the infant/child/adolescent brain to properly transition into adulthood. If overactive, however, the process can remove synapses at random, indiscriminately eliminating critical neural connections.

Based on extensive genetic tests on nearly 65,000 people, the research team has finally identified genes responsible for this overactive pruning process resulting in genetic variations linked to schizophrenia (ibid.).

C4 Genes

Based on the data collected, it was concluded that people with certain variants of C4 genes located in the region called Major Histocompatibility Complex (MHC) had a significantly higher risk of developing schizophrenia, independent of other genetic predispositions.

Notably, C4 genes have been found to be particularly active around late adolescence, editing necessary neural connections initiated during infancy and childhood.

The deficiency in C4 genes, however, can overactivate this pruning process, drastically removing certain synapses critical to normal, healthy brain development.

MHC is a genetic region which has been formerly known to play a key role in the immune system but is now found to be closely linked to schizophrenia.

It was also found that MHC contains DNA variants associated with genome variations which could increase the risk of developing the disease.


These findings have opened a new doorway into what has long been regarded as a “black box” by many researchers, scientists, and medical professionals.

By no means is this the panacea for much of what still remains as a big mystery; however, the study has certainly transformed the way schizophrenia is viewed and understood.

At minimum, the new findings could revolutionize the way the disease is treated. According to NIMH, an estimated 40 percent of individuals with the condition are untreated in any given year. With the new information learned, it might now be possible to develop a more novel and innovative approach to treating schizophrenia beyond the mere symptom reduction with much less severe side effects.

More importantly, the study could eventually help de-mystify the disease as a treatable and even a preventable condition and no longer as a permanently incapacitating illness.

And this possibility alone is a major breakthrough offering new hope for those currently living with the disease and their families.


Healy, M. January 27, 2016. Geneticists uncover a key clue to schizophrenia. Los Angeles Times. Retrieved from

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