Study confirms gene link to brain disorders

Brain scans have revealed how a genetic mutation linked to major psychiatric disorders affects the structure, function and chemistry of the brain.

CCBS researchers in the Division of Psychiatry led a team who scanned the brains of people who have a translocation mutation in the DISC1 gene. This mutation is associated with schizophrenia, bipolar disorder and recurrent major depression.

The team found that people with the mutation had changes in brain structure of their brain. These changes were linked with the severity of their symptoms of mental ill health. They also showed that carriers of the mutation had lower levels of glutamate in certain areas of their brain. Reduced glutamate levels have been strongly linked with schizophrenia in previous studies.

These findings confirm that the DISC1 mutation is associated with a significantly increased risk of psychiatric illness. Continuing to study people with the mutation will likely reveal new insights to the biological mechanisms that underpin these conditions.

This study confirms and extends the genetics of DISC1, and shows how that and similar genetic effects can increase the risk of major mental illnesses.

Family history

The DISC1 mutation was first identified in a Scottish family that showed unusually high rates of major psychiatric disorders. Scientists have been studying generations of the family for 40 years but this is the first time they have scanned their brains.

Study

The study is published in the Nature partner journal Schizophrenia and was funded by the Translational Medicine Research Collaboration – a consortium of Scottish universities and NHS Health Boards, Scottish Enterprise and Pfizer.

Related links

Journal article

Psychiatric disorders research in CCBS

Professor Stephen Lawrie Principal Investigator profile