Researchers have identified a gene mutation strongly linked to schizophrenia, which could have a future impact on available treatments.
The discovery has significant practical implications because the gene identified by the researchers is an especially attractive target for drug development.
“In some ways, this is the kind of gene that the pharmaceutical industry has been waiting for,” said Jonathan Sebat, Ph.D., who led the international team of research scientists. “Its activity can be modulated by synthetic peptides; and some have already been created.”
Schizophrenia is a chronic, severe and disabling brain disorder, with symptoms that include hallucinations, delusions and thought disorders.
It is believed to be caused by environmental and genetic factors, most notably the latter: the illness occurs in 1 percent of the general population, or 10 percent of people who have a first-degree relative with the disorder, such as a parent or sibling.
In previous work, Sebat and collaborator Dr. Mary-Claire King, a professor of medical genetics at the University of Washington, discovered that rare mutations at many locations in the human genome resulted in significantly higher risk of schizophrenia.
These mutations consisted of copy number variants or CNVs – a type of genetic variation in which the number of copies of a gene differs between individuals. The findings were the first conclusive evidence that rare mutations can cause schizophrenia, but they did not identify the specific genes involved.
The latest study goes much further. Researchers scanned for CNVs in the genomes of 8,290 individuals with diagnosed cases of schizophrenia and 7,431 healthy controls. “We found very strong links to multiple sites in the genome,” said Sebat.
“This discovery might be the best target yet to come out of genetic studies of mental illness.” said Sebat. “This is what genomic medicine is all about, finding the relevant genes and using this genetic information to come up with a possible strategy for treatment.”
Sebat said the next step will be to test whether compounds like these have beneficial effects in mice and in cultured human cells that carry the specific gene mutation.
The findings are published in the online issue of the journal Nature.