Mutate Schizophrenically

Genetic mutations influence schizophrenia

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) While the mental health disorder schizophrenia debilitates millions of Americans, researchers begin to answer the age-old question of "how?"

An article provided by earlier this week found a gene believed responsible of increasing susceptibility to schizophrenia.  Scientists now found gene mutations promoting this psychological ailment.

"Schizophrenia affects approximately 1 in 100. "

The study, performed by researchers from the MRC Centre for Neuropsychiatric Genetics & Genomics at Cardiff University, identified genetic mutations in schizophrenic patients who did not inherit the condition. Co-lead on the study,

Professor Michael Owen, tells his university news: "We hope that by identifying these mutations our findings will help us understand more clearly how schizophrenia arises and ultimately identify new targets for treatments."

Published in the Journal of Molecular Psychiatry, the study states that a small number of rare yet recurrent copy number variants, or CNVs, substantially increase susceptibility to schizophrenia.

CNVs are rare genomic factors in the brain. Those with large effects, such as those influencing schizophrenia, are typically removed from the population overtime through natural selection unless genetic mutations keep them around.  

This study sampled 662 schizophrenic cases and found the CNV mutations in 5.1% of cases, 5.5% in cases without a genetic predisposition; only 2.2% within the control group of 2,623.  This confirms the involvement of the mutated CNVs in the pathology of schizophrenia.  

Unfortunately, the task of clarifying exact causation for a complex mental disease such as schizophrenia is not easy, and scientists know the cause of the disorder is not a single gene mutation, and is more likely to involve a plentiful number of risk genes.  

Owen's partner, Professor Michael O'Donovan comments: "The main importance of the finding is that the new mutations were not randomly occurring in genes, instead they were concentrated in a relatively small number of genes which are crucial to the way nerve cells communicate with each other at junctions called synapses."

Eight mutated CNVs occured at four brain loci with known schizophrenic involvement (3q29, 15q11.2, 15q13.3 and 16p11.2).  Several other mutations found in susceptible schizophrenia areas were noted.  

These mutations disrupt essential functions performed at synapses, which connect brain cells. Proteins, normally produced at the synapses, process information from the outside world to memory facility in the brain. Unfortunately for schizophrenia sufferers, disrupting this crucial processing system results in behavioral and mental health disorders.

Reviewed by: 
Review Date: 
November 16, 2011
Last Updated:
November 18, 2011