A recent study has uncovered a pair of genetic deletions associated with schizophrenia that likely occurred during early gestation, challenging the long-held idea that the disorder is primarily inherited. Led by Harvard Medical School clinician-scientist Eduardo Maury, the research team analyzed genetic data from nearly 25,000 individuals with or without schizophrenia.
The study found two genes, NRXN1 and ABCB11, which are associated with schizophrenia when copies of these genes go missing in utero. The researchers identified partial deletions of NRXN1 in five cases of schizophrenia, but none in unaffected individuals. In contrast, the ABCB11 gene was found to have deletions in five more cases, all of whom didn’t respond to antipsychotic medications.
The discovery opens up new possibilities for early prevention and treatment of schizophrenia. While genetic factors play a significant role, environmental events during critical periods of development, such as childhood trauma or viral infections, may also contribute to the risk of developing the disorder.
Schizophrenia affects approximately 1 in 300 people worldwide, typically manifesting in early adulthood. The study’s findings suggest that somatic mutations, which arise after embryonic cells have already begun their journey, can play a significant role in the development of schizophrenia.
Further research is needed to fully understand the significance of these genetic alterations and how they may contribute to the complex architecture of schizophrenia. However, this breakthrough has the potential to revolutionize our understanding of the disorder and inform new prevention strategies.
Source: https://www.sciencealert.com/the-seeds-of-schizophrenia-may-be-planted-in-the-earliest-moments-of-life