Scientists discover genes involved in Schizophrenia affect brain signalling

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In a new study which appears in the Proceedings of the National Academy of Scientists, Scientists from the Center for Applied Genomics at The Children’s Hospital of Philadelphia have identified a number of gene sequences, including some that are involved in brain signalling, that increase the risk of developing schizophrenia.

“When we compared the genomes of patients with schizophrenia to those of healthy subjects, we found variations in genes that regulate brain functions, several of which are already known to be perturbed in patients with this disorder,” said study leader Hakon Hakonarson, M.D., Ph.D., who is also the Director of the Center.

“Although much research remains to be done, detecting genes on specific pathways is a first step to identifying more specific targets for improved drug treatments” said Dr Hakonarson.

Hakonarson and his colleagues analysed the DNA of over 1,735 adults who had been diagnosed with Schizophrenia and compared their DNA to the DNA from 3,458 adults without Schizophrenia. They not only found copy number variations in genes involved in brain function and brain development, they also found some that overlapped with other disorders including Autism and ADHD.

“Although different brain regions may be affected in these different neuropsychiatric disorders, these overlaps suggest that there may be common features in their underlying pathogenesis,” said Hakonarson.

“These genes affect synaptic function, so deletions or duplications in those genes may alter how brain circuits are formed.”

Schizophrenia is a serious psychiatric disorder that affects roughly one to one and half percent of the population. The symptoms can include hallucinations, delusions, disorganised speech, and abnormal thought processes and behaviours, as well as other symptoms.

As Schizophrenia has a tendency to run in families, scientists already know there is a genetic link but that doesn’t mean that if you do have someone in your family that has Schizophrenia that you will too, neither does it mean that if you don’t, you won’t, so there are other factors involved too.

At the moment people with Schizophrenia are usually prescribed anti-psychotic medication, some of which can carry unpleasant side effects. The researchers believe that future studies into copy number variations in the genetic code will enable greater understanding of what is happening in the brain of a person with Schizophrenia and may allow researchers to develop better drugs that are more effective and with fewer side effects.

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