10 "genes of schizophrenia"
Intensive DNA research has revealed 10 genes directly related to schizophrenia
Marina Astvatsaturyan, Echo of Moscow
The hereditary nature of schizophrenia has long been pointed out to scientists by cases of the family history of this mental illness, but the search for genes that cause it gave indirect results.
Now, having analyzed the genomes of tens of thousands of people, researchers have identified about a dozen rare genes whose mutation is the direct cause of the development of schizophrenia, according to a press release from the American Society of Human Genetics (ASHG) Researchers Glean New Insights into Biological Underpinnings of Schizophrenia Findings Reported at ASHG 2019 Annual Meeting.
"These are certain genes with mutations, the effect of which has a clear molecular mechanism," says Mark Daly from the Broad Institute in Massachusetts and the University of Helsinki, head of the consortium that presented the study at the annual conference (American Society of Human Genetics) in Houston, Texas.
People with schizophrenia have a disturbed sense of reality, they have confused thinking, hallucinations and delusions. Some patients turned out to have similar genetic abnormalities, such as the absence of specific DNA sites, but how this is related to the disease was unclear.
Using various approaches, geneticists have been studying DNA markers scattered throughout the genome for years in order to identify those characteristic of patients with schizophrenia and absent in mentally healthy people. To date, in these genome-wide association searches, more than 270 markers have been found in DNA regions that regulate gene activity. However, binding a marker to a specific gene and isolating the role of the gene in the development of the disease is a very difficult job.
To speed up the search for the genetic basis of schizophrenia, a global consortium conducting a meta-analysis of certain DNA sequences (Schizophrenia Exome Sequencing Meta-Analysis) two years ago began collecting a database of exomes, that is, DNA sections encoding proteins, in schizophrenia patients and healthy people. Thus, the object of the consortium's research was precisely the genes, and not their regulatory sites identified earlier.
Today, scientists have the exomes of 24,000 people with schizophrenia and 97,000 without this disease. These numbers provide reliable statistics, and to date, scientists have identified 10 genes with extremely rare variants that cause the development of schizophrenia.
If a person has two mutant copies of any of these genes, then the risk of developing the disease increases from four to 50 times, depending on the gene. Two of the 10 newly discovered genes, GRIN2A and GRIA3, encode receptors of the neurotransmitter glutamate located in the brain. The role of glutamate in schizophrenia has long been assumed, if only because two drugs that block its receptors, phencyclidine and ketamine, can cause symptoms similar to schizophrenic.
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