A gene long associated with schizophrenia and subsequently studied in rodent brain has now been scrutinized in human neurons. These neurons, derived from induced pluripotent stem cells (iPSCs), made for a powerful “disease in a dish” model, allowing scientists to trace the outward rippling of transcriptional dysregulation caused by a central genetic flaw, the gene DISC1 (Disrupted in Schizophrenia-1).
Most major mental disorders, such as schizophrenia, are thought to be caused by a complex interplay of multiple genes and environmental factors. However, studying rare cases of a single disease-linked gene that runs in a family can provide shortcuts to discovery.
Decades ago, researchers traced a high prevalence of schizophrenia in a Scottish clan to mutations in DISC1. Now researchers based at Johns Hopkins report that they have revisited DISC1. This time, however, they used stem cell technology, inducing patients’ skin cells to revert into stem cells before coaxing them to differentiate into neurons. The researchers, led by Hongjun Song, Ph.D., studied iPSCs from four members of an American family affected by DISC1-linked schizophrenia and genetically related mental disorders.
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