Specific gene linked to schizophrenia identified for the first time

Scientists at University College London (UCL) have been involved in a landmark study that has identified, for the first time, 10 genes with extremely rare protein-interfering mutations that significantly increase an individual's risk of developing schizophrenia

In a related paper published in the journal Nature, the researchers also found an unprecedented number of genes linked to schizophrenia in the human genome, the DNA blueprint of the human body

The findings were made by a coalition of hundreds of researchers from 45 countries who analyzed the DNA of 76,755 people with schizophrenia and 243,649 people without schizophrenia to better understand the genes that underpin schizophrenia and biological processes

While previous research has shown links between schizophrenia and many regions of DNA, this is the first time a specific gene has been pinpointed

The researchers say these studies represent a breakthrough in the foundations of our understanding of schizophrenia

Professor Andrew McQuillin, co-author of the paper and head of the UCL Molecular Psychiatry Laboratory (UCL Psychiatry Division), said: "We have now been able to detect specific genes that are A necessary step in the challenging journey of understanding the causes and mechanisms of any disease

Although schizophrenia is associated with a large number of genetic variants, studies have shown that these variants are concentrated in genes expressed by neurons

Schizophrenia is a mental illness that affects 1 in 300 people worldwide

The two studies, led by the SCHEMA Consortium and the Psychiatric Genomics Consortium, are the largest ever international collaborations in mental health

For the first time, the SCHEMA Consortium paper has identified extremely rare protein-interfering mutations in 10 genes that greatly increase an individual's risk of developing schizophrenia

The Psychiatry Genomics Consortium (PGC) paper found more genetic links to schizophrenia than ever before in 287 distinct regions of the genome

This is the largest study to date in mental health genomics, looking at African-American, Latino-American and European ancestry, moving towards more diverse and inclusive research, both in terms of participants and scientists a step forward

Professor Elvira Bramon, co-author of the PGC paper and Director of the Mental Health Neuroscience Research Unit in the UCL Division of Psychiatry, said: "While we have effective pharmacological and psychological interventions for schizophrenia and bipolar disorder, many People experience side effects or their symptoms are only partially improved, which affects their physical health, well-being and even life expectancy

The team's ability to connect to specific areas of genes and biology has been enhanced by collaborating with research on bipolar disorder led by the Bipolar Exome Consortium

Dr Nick Bass, co-author of the paper, said: "Exome sequencing data identified AKAP11 as a risk gene for bipolar disorder and schizophrenia

Dr.
Joshua Gordon, director of the National Institute of Mental Health, said: "These results, achieved through an unprecedented collaboration on a global scale, mark an important step forward in our understanding of the origins of schizophrenia
.
" The discovery It will allow researchers to focus on specific brain pathways as they search for new treatments for this serious mental disorder
.
"