2023-07-07 17:30:00
It affects nearly 600,000 people in France. Schizophrenia is a chronic psychiatric pathology, which is characterized by a disturbed perception of reality, productive manifestations (delusions, hallucinations, etc.), and passive manifestations (social and relational isolation).
Schizophrenia: might somatic mutations be risk factors?
The origin of schizophrenia is multi-factorial. “Its development would result from an interaction between genes and environment, suggesting that there is a genetic vulnerability precipitated by environmental factors”, explained National Institute of Health and Medical Research (Inserm). In a study published in the journal Cell Genomics, researchers have also observed a link between this pathology and somatic mutations, which occur in utero, but following the genetic material has been inherited. This research is among the first to describe the correlation between non-inherited somatic genetic mutations and the risk of schizophrenia.
For the purposes of this research, scientists at Boston Children’s Hospital (USA) analyzed data related to genotypes and markers from more than 20,000 blood samples from people with and without schizophrenia. The researchers then observed that the NRXN1 and ABCB11 genes are associated with cases of schizophrenia when they have undergone a somatic mutation in utero.
Two in utero somatic mutations associated with schizophrenia
In previous studies, the NRXN1 gene, which contributes to the transmission of signals in the brain, had already been linked to schizophrenia. However, this research is the first to establish a link between non-inherited somatic mutations of NRXN1 and this pathology. As for the ABCB11 gene identified by the American team, this is the first time that it has been correlated with a risk of schizophrenia. “This gene came out of nowhere for us (…) Some studies have associated mutations of this gene with treatment-resistant schizophrenia, but it has not been strongly implicated in schizophrenia as such”, indicated Eduardo Maury , study participant and student in the Harvard-MIT MD-PhD program.
During the research, the researchers also found that the ABCB11 gene is also expressed in very specific subsets of neurons that transport dopamine from the brainstem to the cerebral cortex. However, some schizophrenia medications act on these cells to reduce dopamine levels in a patient. In the eyes of the scientists, this hypothesis might explain why the gene is associated with resistance to treatment.
Non-hereditary somatic mutations might therefore constitute risk factors favoring the onset of schizophrenia in adulthood. “With this study, we show that it is possible to find somatic variants in a psychiatric disorder that develops in adulthood (…) This leads us to wonder regarding the other disorders that might be regulated by this type of mutations”, added Eduardo Maury.
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