Schizophrenia Research Breakthrough


A recent study published in the journal Cell Genomics on July 6 has unveiled a significant breakthrough in schizophrenia research. Study links corporeal genetic mutations to schizophrenia, revealing non-inherited genetic mutations’ role in psychiatric disorders, involving 20,000 blood samples and NRXN1 and ABCB11 genes. This groundbreaking finding opens up fresh avenues for exploring other potential mutations linked to the disorder.

Understanding the Causes of Schizophrenia

Schizophrenia is a psychiatric distract characterized by its onset in adulthood. It is widely believed to be influenced by a combination of state of affairs factors and genetics. However, the exact get of schizophrenia remains elusive. The study expands genetic research beyond inheritance, examining non-inherited mutations.

The Study Findings

To uncover the relationship between somatic genetic mutations and schizophrenia, the researchers analyzed genotype-marker data from over 20,000 blood samples obtained from individuals both with and without schizophrenia. The study establishes a connection between schizophrenia and two genes, NRXN1 and ABCB11, during fetal development, representing the first instance of linking somatic mutations to the disorder.

Understanding Somatic Mutations

Somatic mutations differ from inherited mutations in that they are present in specific cells based on when they occur during development. If a mutation arises early in development, it is expected to be present throughout the body in a mosaic pattern. In line with this principle, researchers can identify somatic mutations that occurred early on in development not only in the mind but also in a fraction of cells in the blood. The prevalence of the mutation in the personify depends on the timing of its occurrence after fertilization.

The Role of ABCB11

The study also uncovered the involvement of the ABCB11 gene in schizophrenia. Eduardo Maury, a Harvard-MIT MD-PhD student, uncovered that ABCB11 actively expresses in specific neurons responsible for carrying dopamine from the brainstem to the cerebral cortex. This finding potentially explains the link between ABCB11 and treatment resistance, as it encodes a liver protein primarily known for its function.

Future Research Directions

With these significant findings, the research team aims to identify other acquired mutations associated with schizophrenia. The study examines brain-specific mutations in blood samples, identifying subtle or recent ones. Additionally, somatic deletions or duplications remain under-investigated risk factors associated with various disorders. The study’s implications extend beyond schizophrenia, raising questions about the potential regulation of other disorders by these types of mutations.


The study published in Cell Genomics presents groundbreaking insights into the role of somatic genetic mutations in schizophrenia. Researchers discovered NRXN1 and ABCB11 genes linked to schizophrenia during fetal development, highlighting non-inherited mutations’ importance in psychiatric disorders and expanding understanding beyond inheritance. The study’s findings contribute to the ongoing pursuit of knowledge and therapeutic advancements in the field of schizophrenia research.

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