An international study led by Human Genetics at Leipzig University Medical Center has shown for the first time that changes in a single gene can trigger mental illnesses. Until now, schizophrenia, anxiety disorders or depression were thought to be the result of complex, polygenic factors. The results were published in the journal Molecular Psychiatry .

According to the World Health Organization, nearly one in seven people worldwide were living with a mental illness in 2021, with anxiety disorders and depression being the most common. Mental disorders have a strong genetic component, with an affected family member being considered a significant risk factor. Previous research assumed multiple genetic influences.

The study analyzed data from 121 people with changes in the GRIN2A gene. Certain variants of this gene are not only associated with schizophrenia, but also with other mental illnesses. These manifest themselves as early as childhood or adolescence, in contrast to usual adulthood. Some of those affected showed only psychiatric symptoms, although GRIN2A changes are otherwise often accompanied by epilepsy or intellectual disability.

The GRIN2A gene regulates the electrical excitability of nerve cells and influences the activity of the NMDA receptor, a central molecule for signal transmission in the brain. Variants with reduced receptor activity have been identified. In a first series of treatments, psychiatric symptoms in patients improved with L-serine, a dietary supplement that activates the NMDA receptor.

Researchers Johannes Lemke and Steffen Syrbe have been investigating disorders of the glutamate receptor in children with neurological diseases for almost 15 years. Lemke established an international registry with the world’s largest collection of GRIN2A patients, which formed the basis of the study.

Original Paper:

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy | Molecular Psychiatry

Editor: X-Press Journalistenbüro GbR

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