In a major breakthrough Scientists were able to track brain activity that can increase a person’s chance of developing schizophrenia. The results were published in the journal Nature.
The study, which appears online in the January 27 issue of Nature, was led by researchers from the Broad Institute’s Stanley Center for Psychiatric Research, Harvard Medical School, and Boston Children’s Hospital.
The study has the potential to reinvigorate translational research on a debilitating disease.
Schizophrenia is a devastating psychiatric disorder that afflicts approximately one percent of the population and is characterized by hallucinations, emotional withdrawal, and a decline in cognitive function. These symptoms most frequently begin in patients when they are teenagers or young adults.
First described more than 130 years ago, schizophrenia lacks highly effective treatments and has seen few biological or medical breakthroughs over the past half-century. In summer 2014, an international consortium, led by researchers at the Broad Institute’s Stanley Center, identified more than 100 regions in the human genome that carry risk factors for schizophrenia. The newly published study now reports the discovery of the specific gene underlying the strongest of these risk factors and links it to a specific biological process in the brain.
This landmark study, based on genetic analysis of nearly 65,000 people, has revealed that a person’s risk of schizophrenia is increased if they inherit specific variants in a gene related to “synaptic pruning” — the elimination of connections between neurons. The findings represent the first time that the origin of this devastating psychiatric disease has been causally linked to specific gene variants and a biological process. They also help explain decades-old observations: synaptic pruning is particularly active during adolescence, which is the typical period of onset for schizophrenia symptoms, and brains of schizophrenic patients tend to show fewer connections between neurons. The gene, called complement component 4 (C4), plays a well-known role in the immune system but has now been shown to also play a key role in brain development and schizophrenia risk.
The insight may allow future therapeutic strategies to be directed at the disorder’s roots, rather than just its symptoms.