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Schizophrenia is associated with somatic mutations occurring in utero

Schizophrenia, a psychiatric disorder with adult onset, is influenced by both environmental factors and genetics. A study published in Cell Genomics reveals a correlation between schizophrenia and somatic copy-number variants (mutations occurring after genetic material is inherited). The research examined genotype-marker data from over 20,000 blood samples, identifying two genes, NRXN1 and ABCB11, associated with schizophrenia when disrupted in utero. NRXN1, linked to schizophrenia before, was now associated with somatic, not inherited, mutations. ABCB11, known for encoding a liver protein, was unexpectedly found to be expressed in specific dopamine-carrying neurons related to schizophrenia drug targets. This study expands the understanding of psychiatric disorders and opens new avenues for research into acquired mutations' roles in various disorders.

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