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Strongest yet proof of cause behind schizophrenia identified

Researchers have discovered that disease-linked mutations disrupt specific genes sets that lead to the debilitating condition

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Scientists have produced the strongest yet evidence of what causes schizophrenia. An international team of scientists led by Cardiff University researchers discovered disease-linked mutations disrupt specific sets of genes contributing to excitatory and inhibitory signalling, the balance of which plays a crucial role in healthy brain development and function.

Lead author Dr Andrew Pocklington said that their study marks a significant step towards understanding the biology underpinning schizophrenia, which is an incredibly complex condition and had up until very recently kept scientists largely mystified as to its origins. "It would help them to develop a coherent model of the disease, while helping us to rule out some of the alternatives," he said.

"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," he added.

The paper not only confirms their previous findings, but also provides the first strong genetic evidence that disruption of inhibitory signalling contributes to the disorder. The symptoms of schizophrenia can be extremely disruptive, and have a large impact on a person's ability to carry out everyday tasks, such as going to work, maintaining relationships and caring for themselves or others.

The study is published today in the journal Neuron.

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