UC Davis Health Researchers Identify Biomarkers for Schizophrenia in 22q11.2 Deletion Syndrome

A 2008 report published in Current Psychiatry Reports found that approximately 1% of people with schizophrenia also have a rare genetic disorder called 22q11.2 deletion syndrome. This suggests that schizophrenia and other psychiatric conditions are closely associated with 22q11.2 deletion syndrome

Until this point, researchers have not been able to identify which people with 22q11.2 deletion syndrome have an increased risk of schizophrenia. However, Technology Networks shares that research from UC Davis Health identified metabolic biomarkers and pathway alterations that could lead to psychiatric challenges in people with 22q11.2 deletion syndrome. 

Unpacking the Research

To begin, researchers sourced plasma samples from 16 individuals with 22q11.2 deletion syndrome and 14 healthy controls between seven and 17 years old. Alongside follow-up health visits and both proteomic and metabolomic analyses, the researchers began deepening their understanding of this condition. The research found that:

  • Participants with 22q11.2 deletion syndrome had significantly lower levels of taurine and arachidonic acid than the healthy controls. Taurine is a sulfonic acid that plays an important role in fat metabolism; prior studies have linked low levels of taurine to neurodegeneration. Arachidonic acid is an unsaturated fatty acid that contributes to neurodevelopment and cell function. 
  • 16 proteins showed changes in expression levels in people with 22q11.2, which could play a role in how the condition develops. 

So what does this mean? First, it means that testing levels of taurine and arachidonic acid could highlight those with 22q11.2 deletion syndrome who have a higher risk of schizophrenia or psychosis. Since up to 20% of people with this condition develop psychosis, early detection could provide favorable outcomes through early treatment and management. It could also guide drug development. 

Moving forward, the researchers plan to run a larger study to expand on this data and continue strengthening the knowledge of, and treatment approach to, 22q11.2 deletion syndrome. 

What is Schizophrenia?

The American Psychiatric Society describes schizophrenia as “a chronic brain disorder” that “can include delusions, hallucinations, disorganized speech, trouble with thinking, and lack of motivation.” Doctors don’t know the exact cause of schizophrenia. Brain chemistry, genetics, and environmental factors are believed to play a role. Symptoms usually appear in teenage years to early 30s, with men more commonly diagnosed in late teens or early 20s and women more commonly diagnosed in late 20s or early 30s. There is no cure for schizophrenia, though treatment can help manage symptoms. 

Currently, stigma and misconceptions still heavily exist around schizophrenia. Some individuals believe that people with schizophrenia have split or multiple personalities, or that they are dangerous or violent. This is not true. In fact, some research suggests that people with schizophrenia might actually be more vulnerable or at-risk to becoming victims of crimes or violence. 

People with schizophrenia experience episodes of psychosis or losing touch with reality. During psychosis, people may struggle to understand what is real or what is not. They can see or hear things that are not there (hallucinations) or hold false beliefs despite evidence that they aren’t true (delusions). Speech, thinking, and motor behavior become disorganized. Thoughts or conversations may not make sense or flow logically; people may repeat movements, become catatonic, or experience agitation. Suicidal ideation is more common in people with schizophrenia. If you or a loved one has schizophrenia and is feeling suicidal, please reach out for help. You can reach the Suicide & Crisis Lifeline by calling or texting 988. If you need to reach out in Spanish, you can call 1-888-628-9454.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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