Genetic mutations identified with links to schizophrenia

New light has been shed on the biological processes underpinning schizophrenia with the discovery of genetic mutations that affect the development of the disease.

A team of scientists from Cardiff University allied with other researchers from the US and UK to examine DNA blood samples from 623 schizophrenia sufferers and their parents. They found a number of mutations in affected individuals – but not their parents – that play a key role in triggering the disorder.

These genetic variants were also found to preferentially disrupt specific sets of proteins that have related functions in the brain. These pathways help to modulate the strength of connections between nerve cells and affect brain development, learning, memory and cognition.

The discovery provides insights into one of the core brain processes disrupted by the disorder, thus providing scientists with a new avenue for treating both this and other neurodevelopmental conditions.

Professor Mick O'Donovan from Cardiff University's MRC Centre said: "We need research that takes into account genetics, cognitive science, imaging and other sources of information rather than relying solely on clinical definitions for psychiatric disorders."

Schizophrenia is one of the most common serious mental health conditions, affecting around one in every 100 people during their lifetimes.