Mutations in genes that are responsible for regulating the balance of chemicals in the brain may provide a biological explanation of what causes schizophrenia, according to recent research.
The new study provides some of the strongest evidence to date that mutations to genes that control neurotransmitters can lead to schizophrenia.
Andrew Pocklington, PhD, of Cardiff University, Wales, United Kingdom, and colleagues examined genetic data of 11,355 people with schizophrenia and 16,416 without the disorder. They looked specifically for mutations in genes known as copy number variants (CNVs), in which large stretches of DNA are missing or duplicated.
CNVs found in the schizophrenia patients were observed to impact genes that are involved in the regulation of excitatory and inhibitory neurotransmission in the brain, the researchers reported in the journal Neuron. Normal brain functioning relies on an appropriate balance of neurotransmitters to control the activity of nerve cells.
Researchers have previously thought that disruptions to this balance could interrupt brain signaling, leading to schizophrenia.
“We now have what we hope is a pretty sizeable piece of the jigsaw puzzle that will help us develop a coherent model of the disease, while helping us to rule out some of the alternatives,” Pockington said in a statement. “A reliable model of disease is urgently needed to direct future efforts in developing new treatments, which haven't really improved a great deal since the 1970s.”
The researchers noted that the research may help to predict who may be at risk for developing schizophrenia and could also be used to develop targeted treatments based on an individuals’ genetic makeup. In addition, they said that CNVs may be involved in other neurodevelopmental disorders, such as autism and attention-deficit/hyperactivity disorder.
A team of scientists claims to have finally started to understand what goes wrong in schizophrenia, following the discovery that disease-linked mutations disrupt genes responsible maintaining a chemical balance in the brain crucial for healthy brain development and function.
The mutations disrupt genes that regulate excitatory and inhibitory neurotransmission, which needs to be delicately balanced to ensure the brain functions properly.
The healthy functioning of a brain is dependent on the balance between chemical signals that regulate the activity of nerve cells. In the past, psychiatric disorder experts have suggested that disruption of this balance could contribute to the development of schizophrenia.