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Research finds schizophrenia-associated gene mutations disrupt chemical balance in brain

Study findings in Neuron indicate mutations linked to schizophrenia disrupt specific sets of genes that control excitatory and inhibitory signals, which play an essential role in healthy brain development and function.

Andrew J. Pocklington, PhD, of the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics at Cardiff University, and colleagues compared genetic data from 11,355 patients with schizophrenia and 16,416 patients without the disorder.

When comparing copy number variants, researchers found that mutations among patients with schizophrenia tended to disrupt genes involved with excitatory and inhibitory signaling within the brain.

The current study results confirm previous findings from the team, which indicated schizophrenia mutations interrupt excitatory signaling.

This is the first study to provide evidence that interference of inhibitory signaling contributes to schizophrenia.

“We’re finally starting to understand what goes wrong in schizophrenia,” Pocklington said in a press release. “Our study marks a significant step towards understanding the biology underpinning schizophrenia, which is an incredibly complex condition and has up until very recently kept scientists largely mystified as to its origins.”

The study has promising potential for the future of schizophrenia research, according to Hugh Perry, BSc, MA, DPhil, chair of the Medical Research Council Neuroscience and Mental Health Board.

“In the future, this work could lead to new ways of predicting an individual’s risk of developing schizophrenia and form the basis of new targeted treatments that are based on an individual’s genetic makeup,” Perry said in the release.

Disclosure: Please see the full study for a list of the authors’ relevant financial disclosures.