Markers Indicating Early Signs of Schizophrenia Identified

For the first time, a global study group headed by investigators at Virginia Commonwealth University has found markers that might point out early if a person is susceptible to schizophrenia in the early stage itself.

Markers Indicating Early Signs of Schizophrenia Identified

Edwin van den Oord, Ph.D., and Karolina Aberg, Ph.D., of Virginia Commonwealth University School of Pharmacy's Center for Biomarker Research and Precision Medicine. Image Credit: Virginia Commonwealth University

The capacity to predict the threat of developing schizophrenia later in life may enable early diagnosis and intervention, which the scientists believe can minimize the effect of the disease on people, families, and communities. Molecular Psychiatry published the results of the study.

Schizophrenia, a serious psychiatric disorder, is most often diagnosed in young adulthood. As much as 1% of the world population is affected by this disorder, and it can cause devastating impacts like a sense of losing touch with reality. As per the World Health Organization, people with the disorder are up to three times more possible to die sooner and usually face social isolation, discrimination, and debilitating physical illness.

Even though schizophrenia involves a hereditary genetic factor, there is strong proof that environmental aspects serve a role in determining if a person will develop the disease. Such environmental aspects can initiate chemical changes to DNA that control what genes are switched off or on via a process known as methylation.

Image Credit: Orawan Pattarawimonchai/

Image Credit: Orawan Pattarawimonchai/

Investigating likely genetic triggers for a disease such as schizophrenia is difficult as the disease itself and its associated aspects, like the stress and medications that usually accompany the disease, can cause methylation changes.

Due to the impacts of the disease on the methylome—the term for the set of nucleic acid methylation modifications in the genome or a particular cell of an organism—ideally, samples would be attained before the onset of the disease. However, as schizophrenia is a brain disorder, this would not be possible.

To address this issue, the study group—headed by VCU School of Pharmacy professors Edwin van den Oord, PhD, and Karolina Aberg, PhD—formulated a special approach.

Initially, they investigated blood samples that had been drawn immediately after birth from 333 infants in Sweden, monitoring 24 million methylation marks. The researchers employed statistical analysis that enabled them to investigate methylation marks on a cell-type-specific level.

Since the sampled blood was collected within hours of birth, years before any schizophrenia symptoms occurred, these findings cannot be influenced by the disease itself or other postnatal factors.”

Karolina Aberg, Study Principal Investigator and Associate Director, Center for Biomarker Research and Precision Medicine, Virginia Commonwealth University

Then, the team evaluated any considerable results from the blood samples by relating them to transcriptional data from 595 post-mortem brain samples from various people—a few with schizophrenia and others in a control group who did not develop the disease. The brain samples were offered by investigators from across the globe, including North America, Europe, and Australia.

The researchers also related their results against methylation data from adult blood drawn from schizophrenia controls and cases, which included a sum of 2,970 people.

The team inferred that some differences in methylation already exist in newborns showing an elevated threat of getting schizophrenia.

In other words, we could identify methylation differences between individuals that later on in life would develop schizophrenia and controls that are unique to specific cell-types in the neonatal blood. Research will continue around these methylation differences to develop potential future clinical biomarkers that will allow early detection and intervention.”

van den Oord, Director, Center of Biomarker Research and Precision Medicine, Virginia Commonwealth University

Journal reference:

van den Oord, E. J. C. G., et al. (2023) Genes implicated by a methylome-wide schizophrenia study in neonatal blood show differential expression in adult brain samples. Molecular Psychiatry.


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