New Gene Mutation in Schizophrenia

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5/21/12

New Research
International team from UCSD School of

Medicine, and Trinity College of Dublin.

Has identified a gene mutation strongly linked to

schizophrenia, an important new target for the development of drug therapies.

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SCHIZOPHRENIA
Chronic, sever, disabling brain disorder.

SYMPTOMS include: hallucinations, delusions, and thought disorder. Multifactorial: illness occurs in 1% of general population, 10% of people who have first degree relative with disorder Rare mutations at many locations in the human genome results in significantly higher risk 5/21/12

RESEARCH
Researchers have scanned for CNVs in the

genomes of 8290 individuals diagnosed with schizophrenia and 7431 healthy controls.

Found duplications of chromosome 7q at a

rate of 14 times higher in the diagnosed patient versus the control. The duplications impact a gene coding for the brain receptor VIPR2.
VIPR2 gene is found close to the telomere of

chromosome 7q
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VIPR2 GENE
Helps regulate the formation and activity of

the neurons in the brain.

Receptor is expressed in:

Olfactory Bulb Thalamus Hypothalamus Hippocampus Suprachiasmatic nucleus Pancreas Heart Lung Stomach 5/21/12

VIPR2 MUTATION
VIP binds to VIPR2 receptor on a neuron, it

triggers a key relay chemical within the cell. This is called cyclic AMP, an important second messenger that actives specific proteins. that block this receptor might hold potential for treatment development.

Over activity is found in blood cells, agents

The study also measured expression of the

VIPR2 gene in blood cells from patients, they found that individuals with mutation had greater expression of VIPR2 and 5/21/12 greater activity of the receptor.

IN CONCLUSION
This is an important new finding in the

genetics of schizophrenia, identifying genes prone to harboring these mutations in brain development pathways holds for treatment and prevention of schizophrenia as well as a wide range of other neurodevelopmental brain disorders

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