London, Feb 3 (ANI): A team of scientists has discovered a gene mutation strongly linked to schizophrenia and a signaling pathway that may be treatable with existing compounds.
"In some ways, this is the kind of gene that the pharmaceutical industry has been waiting for. Its activity can be modulated by synthetic peptides; and some have already been created," said Jonathan Sebat at the University of California, San Diego School of Medicine.
Schizophrenia is a chronic, severe and disabling brain disorder, with symptoms that include hallucinations, delusions and thought disorders.
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. Some had been picked up before in earlier studies, but we uncovered a very important new finding: duplications at the tip of chromosome 7q were detected in individuals with schizophrenia at a rate14 times higher than in healthy individuals. These CNVs impact a gene that is important for brain development - the neuropeptide receptor VIPR2," said Sebat.
Previous studies have shown that VIPR2 helps to regulate the formation and activity of neurons in the brain.
Sebat and colleagues measured expression of the VIPR2 gene in blood cells from the patients and found that individuals with mutations had greater expression of VIPR2 and greater activity of the receptor.
"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."
The study appears in Nature. (ANI)