New Genes Linked to Schizophrenia Identified

Core Concepts

New genes SRRM2 and AKAP11 linked to schizophrenia, with implications for drug development.

Abstract

The study identifies two new genes, SRRM2 and AKAP11, linked to schizophrenia, with implications for drug development. The research, published in Nature Genetics, highlights the importance of rare protein-truncating variants (PTVs) in understanding the genetic architecture of schizophrenia. The study, conducted on a diverse cohort, emphasizes the need for large patient cohorts to identify PTVs and genes associated with the disorder. The findings suggest a shared risk for schizophrenia and autism in the gene PCLO. The study's inclusion of diverse populations is crucial for developing pharmaceutical agents that can benefit a wider range of individuals.

Stats

The study compared gene sequences of 35,828 people with schizophrenia to 107,877 people without the condition.
About 40% of the genetic samples included in the study came from people of non-European ancestry.
The study sequenced a cohort of 11,580 schizophrenia cases and 10,555 controls of diverse ancestries.
The meta-analysis revealed two new genes linked to schizophrenia, SRRM2 and AKAP11.

Quotes

"It's not curing the illness, but it is taking us a step closer so that we're able to say that this may be the cause of the illness in a particular patient." - Dr. Alexander Charney
"In other disorders, having genetic findings have really opened a window into the molecular mechanisms, which has allowed us to develop pharmaceuticals and understand the disease process better." - Jennifer Gladys Mulle

Key Insights Distilled From

New Schizophrenia Genes Identified

by Kelli Whitlo... at www.medscape.com 03-23-2023

https://www.medscape.com/viewarticle/990039

Deeper Inquiries

How can the identification of new genes linked to schizophrenia impact the development of treatments for the disorder?

The identification of new genes linked to schizophrenia, such as SRRM2 and AKAP11, can have a significant impact on the development of treatments for the disorder. By pinpointing specific genes associated with schizophrenia risk, researchers can gain insights into the underlying biological mechanisms of the illness. This knowledge can lead to the development of targeted therapies that address the root causes of schizophrenia at a molecular level. For example, drugs could be designed to modulate the activity of these genes or their related pathways, potentially offering more effective and personalized treatment options for individuals with schizophrenia. Additionally, understanding the genetic basis of schizophrenia can help in the identification of biomarkers for early diagnosis, monitoring treatment response, and predicting disease progression.

How can the challenges exist in translating genetic findings into clinical applications for psychiatric illnesses like schizophrenia?

Translating genetic findings into clinical applications for psychiatric illnesses like schizophrenia poses several challenges. One major challenge is the complexity of psychiatric disorders, which are influenced by a combination of genetic, environmental, and lifestyle factors. Identifying specific genes associated with these disorders is just one piece of the puzzle, and understanding how these genes interact with each other and with environmental factors is crucial for developing effective treatments. Additionally, the genetic architecture of psychiatric disorders is often polygenic, involving multiple genes with small effects, making it difficult to pinpoint the exact genetic contributors to the illness. Furthermore, genetic research in psychiatry often relies on large and diverse cohorts, which can be challenging to assemble and analyze due to the heterogeneity of psychiatric conditions and the need for extensive data collection and collaboration across multiple institutions.

How can the inclusion of diverse populations in genetic studies improve our understanding and treatment of mental health disorders?

The inclusion of diverse populations in genetic studies can significantly improve our understanding and treatment of mental health disorders, including schizophrenia. Historically, genetic research in psychiatry has predominantly focused on individuals of European ancestry, leading to a lack of representation and generalizability of findings across different ethnic groups. By including diverse populations in genetic studies, researchers can uncover genetic variants that may be specific to certain populations or shared across multiple ethnicities. This can help in identifying common genetic risk factors for mental health disorders that transcend ethnic boundaries and developing more inclusive and effective treatment strategies that consider the genetic diversity of patients. Additionally, studying diverse populations can provide insights into the interplay between genetics, environment, and culture in the manifestation of mental health disorders, leading to more personalized and culturally sensitive approaches to diagnosis and treatment.