Researchers from the Broad Institute and several collaborating institutions have gained a deeper understanding of the genetic basis of schizophrenia by carefully examining the human genome. In two studies published this week in the journal Nature, scientists analyzed the exomes of schizophrenic patients and healthy people, pointed out some mutation sites, and identified some patterns, Revealed some potential biological information about the disease.
The first study compared gene sequences from 2,500 schizophrenic patients with 2,500 healthy individuals from the same group. The second study looked for gene mutations from more than 600 schizophrenic families (affected individuals and their parents who were not affected by the disease) to find possible mutations in protein-coding genes. The two graduate students became further evidence that the disease was caused by a combination of many genes. Studies have also shown that genetic variation often clusters in several functionally related gene networks.
Schizophrenia is a serious mental illness, often manifested by hallucinations, paranoia, and thinking disorders. It is known to have a high heredity. Approximately 1% of adults are affected by the disease, and the immediate family members of the patients are nearly 10 times more likely to develop the disease. Although this high heritability has long been recognized, previous studies have been difficult to identify specific genes that cause schizophrenia.
The current two studies are by far the largest such studies. The researchers looked for mutations that have not seen effectiveness in previous studies: at the single nucleotide level, a single base substitution, insertion, or Delete and other changes.
Shaun Purcell, a member of the Broad Institute, said: “Despite the use of a fairly large sample, none of the genes in the two studies showed a clear association with the disease. Overall, some genes related to neural function and development are in patients Shows a greater rate of disruptive mutations. This research finding is thought-provoking and reveals that many genes form the basis of risk for schizophrenia. Therefore, any two patients are unlikely to share the same risk gene profile .
The two studies also found some mutations scattered across many genes, and the research team found that the distribution of mutations in the entire gene network has some similar patterns. Many genes carrying mutations have some common functions: they often control synaptic functions, including voltage-gated calcium channels (participating in signal transduction between cells in the brain) and cytoskeletal (APC) protein complexes (in synapses) Plasticity plays a part in the genetic network).
The authors of the two papers, Steven McCarroll, director of genetics at the Stanley Psychiatric Research Center of the Broad Institute and professor of genetics at Harvard Medical School, said: "From a scientific point of view, we have seen the genetics of schizophrenia using different approaches converge The same array of genes is reassuring. These different methods all point to the same basic biology, which can be further tracked in future research.
Analysis of schizophrenic neonatal mutations also revealed that there was a clear overlap with some of the neonatal mutations previously shown to be related to autism and intellectual disability. This study found that it may affect the research used by researchers in subsequent studies. method.
The researchers believe that both papers confirm that genome sequencing will continue to be a powerful tool for schizophrenia research, but that more samples need to be sequenced before fully understanding the genetics of this complex disease.
Ed Scolnick, chief scientist at the Stanley Center, said: "Combining the exome sequencing data in these papers with the ongoing genome-wide association study of schizophrenic patients will help reveal the pathogenesis of this devastating disease. This research work Build a roadmap that will lead to better treatment for schizophrenic patients and families. "
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