Published April 19, 2023 Mental Health Awareness Month Two Novel Genes That May Heighten Risk for Schizophrenia By Staff In a press release from the Icahn School of Medicine at Mount Sinai, researchers announced their discovery of two previously unknown genes associated with the incidence of schizophrenia (SCZ) and a third gene carrying the risk for SCZ and another developmental disorder. The multicenter study revealed that the SCZ risk conferred by these rare damaging variants is conserved across ethnicities. The study findings may also lead to the development of novel therapeutics for treating SCZ. The results were recently published in the journal Nature Genetics.The authors wrote, “A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear.”The study was a meta-analysis that compared gene sequences of 35,828 individuals with schizophrenia to 107,877 individuals without the condition. That data were collected from existing datasets.The researchers indicated that this was the first known study to examine schizophrenia risk across diverse populations, making it the most ethnically diverse genetics study for schizophrenia, particularly those of African ancestry. By comparing the gene sequences of individuals with schizophrenia to those of healthy controls, the researchers discovered the two risk genes, identified as SRRM2 and AKAP11, which contain rare protein-truncating variants that could be potential causes of schizophrenia in some patients.The authors concluded, “Achieving diversity in human genetic research must be a top priority to prevent health disparities from worsening as findings from genetic research begin to be translated into clinical practice.”Lastly, the authors wrote, “Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.”The lead author Dongjing Liu, PhD, a former postdoctoral researcher in the laboratory of Alexander W. Charney, MD, PhD, a cosenior corresponding author of the study and associate professor of psychiatry, genetics, and genomic sciences, neuroscience, and neurosurgery at Icahn Mount Sinai, stated, “By focusing on a subset of genes, we discovered rare damaging variants that could potentially lead to new medicines for schizophrenia.”The researchers also noted that clinicians should be cautious because not every patient has the rare damaging variant in the newly discovered schizophrenia genes, indicating that schizophrenia is a multifactorial and complex disease.The researchers plan to conduct other investigations to determine if and how these genes may have a clinical role and may be correlated to a specific behavior or symptom of schizophrenia. They will also conduct research to discover pharmacologic therapies that may be instrumental in targeting the genes identified in this study.The content contained in this article is for informational purposes only. The content is not intended to be a substitute for professional advice. Reliance on any information provided in this article is solely at your own risk. « Click here to return to Schizophrenia Update.