Rare gene glitch may hold clues for schizophrenia
Scientists identify a rare genetic glitch that could help improve treatments for schizophrenia.
Ehrhardt: New research has linked a rare genetic mutation to the mental illness schizophrenia. The mutation has been found in a very small percentage of people, but the finding could help to improve treatment for many with the disorder.
Sebat: This has immediate implications for diagnosis and treatment.
Ehrhardt: Dr. Jonathan Sebat works for the University of California San Diego. He led the study team, and he explains that discovery of this shared genetic abnormality is an important advance.
Sebat: Schizophrenia is a genetic disorder. We can find these genes, and these genes identify new pathways that are potential avenues for drug development.
Ehrhardt: Dr. Sebat says that schizophrenia is known to have a strong genetic component—having a parent or sibling with the disorder increases one's risk tenfold. However, genetic studies have so far explained relatively few cases of the illness. Dr. Sebat and his colleagues found mutations in a gene that controls part of the system for a brain chemical called a neuropeptide.
Sebat: Neuropeptides are interesting because they affect neurons in other ways. Neuropeptides help to regulate gene expression, blood flow, and the formation of synapses, for example.
Ehrhardt: A neuropeptide acts as a chemical messenger in the brain. Scientists focused on the gene for V-I-P-R-2, pronounced "viper two,” a receptor for one of these neuropeptide chemical messengers.
Sebat: Our findings established a link between the neuropeptide receptor VIPR2 and schizophrenia.
Ehrhardt: This neuropeptide and its receptor are known to play a role in brain development. However, the discovery of a link to schizophrenia was a surprise to scientists.
Sebat: The VIPR2 gene helps to regulate learning and behavior. However, this gene was certainly not on anybody’s top ten list.
Ehrhardt: Dr. Sebat explains that schizophrenia patients were 14 times more likely to have multiple copies of the gene for VIPR2.
Sebat: There were duplications that occurred 14 times more frequently in patients than in controls.
Ehrhardt: VIPR2 triggers a signaling system in the cell. Dr. Sebat and other scientists now believe other schizophrenia patients could also have disturbances of this signaling system, even if they lack this particular genetic mutation. He says many people could benefit.
Sebat: Genetic tests for mutations in VIPR2 could help to identify people at risk for schizophrenia, and it could help to identify patients with schizophrenia that were most likely to benefit from a treatment that targets this gene.
Ehrhardt: This research was funded in part by the National Institutes of Health. For more information on schizophrenia and this study, visit www.nimh.nih.gov. This is Britt Ehrhardt at the National Institutes of Health, Bethesda, Maryland.
About This Audio Report
Reporter: Britt Ehrhardt
Sound Bite: Dr. Jonathan Sebat
Topic: schizophrenia, mental illness, neuropeptide, psychiatric disorder, VIPR2
Additional Info: Rare gene glitch may hold clues for schizophrenia—NIH-funded study