Schizophrenia is a severe, complicated illness. There are no obvious explanations for what causes the condition, which causes hallucinations and delusions. Genes are known to play a big role. The condition is often clustered in families.
Scientists announced a significant step in understanding the genetics of the disease this week. A large nationwide consortium of scientists led by Jonathan Sebat of UC San Diego has identified a gene mutation that is strongly linked to the disorder. Understanding the signaling pathway of this mutation creates a target for future therapies.
Previous research has shown a number of rare gene mutations that increase the risk of schizophrenia. In the new study, researchers looked for specific gene variants, called copy number variants, in 8,290 people with schizophrenia and 7,431 healthy people. Among the discoveries was a duplication in the tip of chromosome 7q. This duplication was found in people with schizophrenia at a rate 14 times that of healthy people.
The duplication affects a particular gene called the vasoactive intestinal peptide receptor 2 gene, which is known to play a role in behavior and learning. In people with schizophrenia, the expression of this gene is much higher, the researchers found. The VIPR2 gene mutation, therefore, will be an important target in developing medications that might alter the symptoms of the illness.