Scientists Identify Rare Damaging Gene Variants That May Increase Risk Of Schizophrenia

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Scientists have identified rare damaging gene variants associated with an increased risk of schizophrenia. 

The multi-center study led by the Icahn School of Medicine at Mount Sinai found the schizophrenia risk from these rare damaging variants is conserved across ethnicities, NeuroScienceNews reported. 

The study, published in the journal Nature Genetics, may open up new treatment strategies.

Schizophrenia is a type of mental illness that occurs in about one in every 100 people. The distressing condition affects how one thinks, feels, and behaves. Schizophrenic people often seem like they are distant from reality.

This study is the first of its kind to analyze schizophrenia risk across diverse populations, especially those of African ancestry. The study authors compared the DNA of people with schizophrenia with healthy people, and found the two risk genes–SRRM2 and AKAP11. The study tested datasets of 35,828 cases and 107,877 controls.  

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

“Also significant: studying people of various ancestral backgrounds, we found that rare damaging variants in evolutionarily constrained genes confer a similar magnitude of schizophrenia risk among those different populations and that genetic factors previously established in predominantly white people have now been extended to non-whites for this debilitating disease,” Liu added.

Moreover, researchers identified a third gene, PCLO, as having a shared risk for schizophrenia and autism. This finding was most intriguing for scientists.

“It’s been known that there are genetic components shared among illnesses. Clinically, genes could look different in the same family. The same variant in the same family may cause autism in one family member and schizophrenia in another,” Alexander W. Charney explained. 

“The idea of the same gene having different manifestations is very interesting to us, as it could be useful when it comes to treating people in the clinic,” Charney continued.

However, researchers cautioned it was not compulsory for a person with schizophrenia to have a damaging variant in the identified novel genes. The multifactorial disease has no single cause.

Now, the researchers want to find the clinical role of these variants, and whether they can be attributed to a specific symptom of schizophrenia. In addition, they will try to identify drugs that might target these genes.

“We wanted to continue the insightful work of my and Dr. Charney’s deceased mentor, Pamela Sklar, MD, Ph.D., a psychiatrist, geneticist, and neuroscientist whose conceptualization of the study design to first select genes and then investigate them in a large number of cases and controls was a revolutionary idea,” said Laura M. Huckins, co-senior corresponding author on the study, and an Associate Professor of Psychiatry at the Yale School of Medicine.   

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