Page URL:

Rare gene mutation linked to schizophrenia

28 February 2011
Appeared in BioNews 597

Scientists have identified a rare gene mutation which they believe is linked to schizophrenia. The researchers from the University of California, San Diego and Trinity College Dublin performed a genome-wide association scan of CNVs  (copy number variations) - the duplication or deletion of large chunks of DNA sequences in the human genome. They detected a rare duplication on chromosome seven that was 14 times more common in individuals with schizophrenia than in a control group. The duplication of the DNA sequence was present in 29 out of 8,290 individuals with schizophrenia (0.35 percent of individuals), and in two out of 7,431 healthy controls (0.03 percent of individuals).

The area involved affects the gene coding for the protein Vasoactive Intestinal Peptide Receptor 2 (VIPR2). This is present in a number of brain regions such as the hippocampus and amygdala, and is thought to be involved in neuron signalling, learning and memory, and maintaining normal circadian rhythms.

The researchers measured levels of VIPR2 in individuals with schizophrenia and a group of controls, and found that the expression and activity levels of the protein were greater in individuals with the DNA duplication than in those without. 'This suggests that the mutations increase signalling in the Vasoactive Intestinal Peptide pathway', said Professor Aiden Corvin, a researcher involved in the study from the psychosis research group at Trinity College Dublin.

'We know that this activity can be modulated by synthetic peptides (compounds where amino acids are linked together) and the next step is to see if these compounds have a therapeutic effect in mice or in cultured human cells that carry the VIPR2 gene mutation'.

'This discovery might be the best target yet to come out of genetic studies of mental illness', said Dr Jonathan Sebat from the University of California, San Diego, who led the study.

Schizophrenia is a complex condition, which is thought to have a genetic component. The psychiatric disorder occurs in one percent of the general population, and in ten percent of individuals with a parent or sibling with the condition. Earlier studies identified CNVs that increased the risk of schizophrenia, however, together these accounted for only a small proportion of cases (1 to 2 percent). This study confirms that the rare CNVs identified in previous research were associated with schizophrenia, and detected a new CNV on chromosome seven, with potential implications for brain functioning.

The researchers concluded that 'the rapidly growing list of rare CNVs that are implicated in schizophrenia indicates that this psychiatric disorder is, in part, a constellation of multiple rare diseases'.

The study was published in the journal Nature.

Discovery of new gene mutation in schizophrenia offers a new target for drug therapies
Eurekalert (press release) |  23 February 2011
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Nature |  23 February 2011
Schizophrenia risk is increased with a particular gene mutation
Los Angeles Times |  23 February 2011
7 November 2011 - by Dr Nadeem Shaikh 
Two Chinese genome wide association studies (GWAS) have identified genomic regions linked to the incidence of schizophrenia. The papers, published in Nature, are some of the first GWAS to look at Chinese as opposed to Western populations....
15 August 2011 - by Mehmet Fidanboylu 
US researchers have linked mutations in 40 genes to sporadic schizophrenia. The evidence suggests that 50 percent of people with schizophrenia without a family history of the condition have 'de novo' DNA mutations that were not passed on from their parents...
18 April 2011 - by Ruth Pidsley 
Skin cells from four people with schizophrenia have been successfully reprogrammed into an embryonic-like state and then transformed into brain cells. The research, published in Nature, offers scientists a novel way to study the causes of schizophrenia...
20 September 2010 - by Ken Hanscombe 
An international team of researchers has identified a new gene, CYMA5, which is thought to be associated with schizophrenia...
17 May 2010 - by Victoria Kay 
US researchers have identified several genes related to brain function that may increase the risk of developing schizophrenia, according to a new study published in the Proceedings of the National Academy of Sciences....
30 November 2009 - by Dr Rachael Panizzo 
Researchers at the University of Edinburgh, Scotland, have identified a gene that may be involved in mental illness and maintaining brain health. The scientists compared the genes of 2,000 psychiatric patients and 2,000 healthy people in Scotland. They discovered that the ABCA13 gene was faulty more frequently in patients with severe mental illness - such as schizophrenia, bipolar disorder and depression - than in the healthy control group....
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.