Genetic complexities of schizophrenia revealed

Posted Jan 25, 2014 by Tim Sandle
Two new studies provide insight into the genetics of schizophrenia and the results show once again how complex the condition is.
An illustration of a neurone
An illustration of a neurone
Dr. Vincent Daria
Schizophrenia is a mental disorder characterized by a breakdown of thought processes and by impaired emotional responses. Common symptoms include delusions, such as paranoid beliefs; hallucinations and disorganized thinking. Because schizophrenia often runs in families, this suggests that the condition has an underlying genetic basis (with social and environmental factors also contributing).
Two studies published in Nature now give some insight into the mutations that can trigger the neuropsychiatric disease, at the same time revealing some of the intricacies of its genetics.
The first study, by Menachem Fromer and colleagues, titled "De novo mutations in schizophrenia implicate synaptic networks," argues that inherited genes account for most of the genetic risk for schizophrenia, although mutations in later life can trigger the mental illness in a small fraction of cases.
With the mutations, the international team found this by sequencing samples from more than 2,500 people with schizophrenia and more than 2,500 healthy controls. The researchers found rare, disruptive mutations in the genomes of people with schizophrenia, and many of them in genes related to neuronal signaling.
The second study, by Shaun M. Purcell and colleagues, called "A polygenic burden of rare disruptive mutations in schizophrenia," argues that genetic testing can reveal the mutations that cause the condition; however, the mutations remain highly complex and cannot yet be completed fathomed.
To add to these studies, Digital Journal reported recently that a science group has found evidence that transposable elements, also known as jumping genes, may contribute to the development of schizophrenia.
All this data points to schizophrenia being a complex, genetically triggered disorder, and that there is a long way to go in relation to unraveling causes and treatments.