Identify novel genes that may increase risk of schizophrenia

summary: A new study has identified two new genes associated with schizophrenia and a third new gene associated with an increased risk of autism and schizophrenia.

sauce: Mount Sinai Health System

Researchers identify two previously unknown genes associated with schizophrenia, suggesting a new third gene carries risk for both schizophrenia and autism Did.

This multicenter study, led by the Icahn School of Medicine at Mount Sinai, further demonstrated that the schizophrenia risk posed by these rare deleterious variants is conserved across ethnic groups. The study may also point to new treatments.

The survey results were published online on March 13th. natural genetics.

Schizophrenia is one of the most serious mental illnesses. It occurs in about 1 in 100 people and affects how you think, feel and act. A person with schizophrenia may seem as if they have lost touch with reality.

In this study, the first known study of its kind investigating the risk of schizophrenia in diverse populations, especially those of African descent, researchers found two risk genes. SRRM2 and AKAP11, by comparing the gene sequences of people with schizophrenia to those of healthy controls. The meta-analysis included existing datasets of up to 35,828 cases and 107,877 controls in total.

The study builds on a recent study that identified 10 risk genes for schizophrenia. However, unlike the current study, previous studies were conducted primarily in people of white European ancestry.

“By focusing on a subset of genes, we discovered rare deleterious variants that could lead to new drugs for schizophrenia,” said lead author Dongjing Liu, PhD. Associate Professor of Psychiatry, Genetics and Genomic Sciences, Neuroscience, and Neurosurgery at Icahn Mount Sinai and co-senior corresponding author of this study.

“Also importantly, studies of people from different ancestral backgrounds have shown that rare deleterious variants in evolutionarily constrained genes have a similar risk of schizophrenia among those different populations. and found that genetic factors previously established predominantly in white people are now being extended to non-white people for this debilitating disease.”

A third gene flagged in the study was PCLOs, Previously associated with schizophrenia, it has now been identified as a common risk for schizophrenia and autism. The findings raise questions about how we think about brain disease as a whole, Dr. Charney suggested.

“We know that there are genetic components that are shared among diseases. Clinically, genes can look different within the same family. It can cause autism in a member and schizophrenia in another family. It’s very interesting for

The researchers caution that not all patients carry rare damaging variants in the identified schizophrenia genes. The disease is multifactorial and has no single factor.

Next, researchers will assess whether these genes may play a clinical role and how they may be linked to specific behaviors and symptoms of schizophrenia. They will also work to identify drugs that may target genes in research.

“We wanted to continue the insightful work of my late mentor and Dr. Charney, Pamela Sklar, M.D., a psychiatrist, geneticist and neuroscientist. We conceptualized the study design to select genes and then investigate them across a large number of genes.Cases and controls was a revolutionary idea,” said formerly at Icahn Mount Sinai, now said Laura M. Hackins, Ph.D., associate professor of psychiatry at Yale University School of Medicine and co-principal director of the study.

“This work would not have been possible without the enormous global collaboration and how willing people were to work with us. , is about improving the lives of patients, and we thank our collaborators for their support in this endeavor.”

The paper is titled, “The risk of schizophrenia conferred by rare proteolytic variants is conserved across diverse human populations.”

About this genetics and schizophrenia research news

author: Karin Eskenazi
sauce: Mount Sinai Health System
contact: Karin Eskenazi – Mount Sinai Health System
image: Image is credit to Neuroscience News and was created using From E2 AI technology

Original research: Findings are displayed in: natural genetics