Researchers identify genetic mutations responsible for 10 percent of schizophrenia

03 June 2008

A study recently published in the journal Nature Genetics reported that people with no family history of schizophrenia but who go on to develop the illness were found to have approximately eight times more ‘spontaneous’ genetic mutations (that is, genetic mutations occurring in the absence of external ‘mutating forces’) than people who do not have schizophrenia. These mutations occurred mostly in genes involved in brain development.

Scans of the DNA of people with schizophrenia revealed that a particular type of spontaneous genetic mutation – ‘copy number’ mutations, which involve either the gain or loss of a genetic material – account for at least 10% of the non-familial cases of the illness.

Furthermore, in non-familial cases of schizophrenia, researchers were able to identify specific genetic mutations present in people with illness but not in their unaffected biological parents. Echoing findings of another recently published study, most of these mutations were found in genes involved in brain development.

The Director of the U.S. National Institute of Mental Health commented that “such abnormal deletions or duplications of genetic material are increasingly being implicated in schizophrenia and autism. Now we have a dramatic demonstration that genetic vulnerabilities for these illnesses may not be inherited from parents, at least in the sense that these vulnerabilities were not present in the parental genes. This line of research holds promise for improved treatments – and perhaps someday even prevention – of developmental brain disorders.”

Reference:

Xu B et al. Strong association of de novo copy number mutations with sporadic schizophrenia. Nature Genetics. Published online: 30 May 2008