Research Studies
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April 2, 2024

Unlocking the Genetic Pathways to Psychosis: A Study Reveals Key Insights

Written By
Medically Reviewed by
Dr. Jeannie Achuff ND
Updated On
January 14, 2025

If you have ever felt alone in your journey with mental health, it's important to remember that your experiences are both seen and heard. Mental health conditions, with their deep complexities and unique challenges for each individual, can make one feel isolated in a crowded room. 

However, it’s within these challenges that a new beacon of hope shines through from the scientific community. A prospective cohort study published in Molecular Psychiatry has explored the genetic complexity behind psychiatric disorders, aiming to light the path toward a future of care that feels as unique as the experiences of those it seeks to help.

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The Study at a Glance: Objectives and Methodology

In this study, researchers wanted to see if there's a link between certain genetic risk factors and the types of symptoms people with psychosis have. They looked at 205 people who had been diagnosed with a psychosis-related disorder and compared them to 115 people who didn't have these disorders. They used a method that involves calculating Polygenic Risk Scores (PGSs) for schizophrenia (SZ) and bipolar disorder (BP).

They also checked if certain groups of genes, specifically those that are involved in how brain cells communicate using neurotransmitters, could be linked to particular symptoms of psychosis. These neurotransmitters include glutamate, GABA, dopamine, and serotonin, all of which play important roles in our brain function.

Participants went through detailed interviews and tests to measure their psychiatric symptoms, and they also gave samples for genetic analysis. By comparing the genetic information and the symptoms of the participants with psychosis to those of the control group, the researchers aimed to identify specific genetic patterns that could help explain why some people have certain symptoms of psychosis.

Study Findings

  • People with Psychosis Have Higher Genetic Risk for Schizophrenia: The study found that individuals experiencing early stages of psychosis had a higher genetic risk for schizophrenia compared to people without psychosis.
  • Genetic Risk and Symptoms: The researchers did not find a clear link between an individual's overall genetic risk for psychosis and their specific symptoms.
  • Link Between Specific Genes and Symptoms: They discovered that certain genes related to neurotransmitters (chemicals in the brain like glutamate, GABA, dopamine, and serotonin) were connected to specific symptoms in psychosis. For example, genes related to glutamate were linked to schizophrenia and challenges with cognitive control (like focusing or making decisions), while genes related to dopamine were connected to how well a person functions in daily life.
  • Different Groups Based on Symptoms: The study identified three different groups of patients with psychosis based on their symptoms and functioning. One of these groups had particular genetic risks related to glutamate and GABA, which are neurotransmitters involved in brain signaling.

Implications for Psychiatry: A Step Toward Precision Medicine

This research marks a significant step forward in the quest to understand psychiatric disorders through a genetic lens. The findings suggest that genetic predispositions, particularly those affecting specific neurotransmitter systems, may play a role in the development and presentation of psychiatric symptoms. 

This knowledge opens the door to personalized treatment approaches, potentially allowing clinicians to tailor interventions based on an individual's genetic risk profile.

Neurotransmitter Level Testing

The study's focus on neurotransmitter-specific polygenic scores (pPGSs) for SZ affecting neurotransmitter systems such as glutamate, GABA, dopamine, and serotonin highlights the importance of neurotransmitter balance in psychiatric conditions. 

Functional labs that offer neurotransmitter level testing through urine or cerebrospinal fluid (CSF) could provide insights into the real-time status of these neurotransmitters in patients, potentially guiding personalized treatment plans.

Neurotransmitter tests offered through Rupa Health include Neurotransmitters by ZRT Laboratory and Comprehensive Neurotransmitter Profile by Doctor's Data.

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Key Takeaways

  • The study highlights the potential role of genetic predispositions, particularly within specific neurotransmitter pathways like glutamate and dopamine, in influencing the manifestation and severity of early-stage psychosis, suggesting a move toward personalized psychiatric approaches.
  • By identifying distinct genetic risk profiles through clustering, the research reveals that psychiatric disorders can present in varied forms, underlining the importance of considering treatment tailored to an individual's unique genetic and symptomatic makeup.
  • This research underscores the potential for a future in psychiatric care where approaches are customized based on an individual's genetic risk factors, offering hope for more effective interventions with fewer side effects, and enhancing understanding and empathy towards mental health experiences.
The information in this article is designed for educational purposes only and is not intended to be a substitute for informed medical advice or care. This information should not be used to diagnose or treat any health problems or illnesses without consulting a doctor. Consult with a health care practitioner before relying on any information in this article or on this website.

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Lab Tests in This Article

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Comprehensive Neurotransmitter Profile - 24 hr by Doctor’s Data. (n.d.). Rupa Health. Retrieved March 20, 2024, from https://www.rupahealth.com/lab-tests/doctors-data-comprehensive-neurotransmitter-profile-24-hr

Kresge, K. (2022, April 22). 5 Micronutrient Abnormalities That May Make Bipolar Disorder Worse. Rupa Health. https://www.rupahealth.com/post/a-functional-medicine-approach-to-bipolar-disorder

Kresge, K. (2023, January 31). An Integrative Approach to Mental Health. Rupa Health. https://www.rupahealth.com/post/an-integrative-approach-to-mental-health

National Human Genome Research Institute. (2020, August 11). Polygenic Risk Scores. Genome.gov. https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

Neurotransmitters by ZRT Laboratory. (n.d.). Rupa Health. Retrieved March 20, 2024, from https://www.rupahealth.com/lab-tests/zrt-laboratory-neuroadvanced-profile-dried-urine

Warren, T. L., Tubbs, J. D., Lesh, T. A., Corona, M. B., Pakzad, S. S., Albuquerque, M. D., Singh, P., Zarubin, V., Morse, S. J., Sham, P. C., Carter, C. S., & Nord, A. S. (2024). Association of neurotransmitter pathway polygenic risk with specific symptom profiles in psychosis. Molecular Psychiatry, 1–10. https://doi.org/10.1038/s41380-024-02457-0

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