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Calcium-channel abnormalities underlie genetic cause of schizophrenia

Nature Medicine
Reuters Health - 12/10/2020 - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I think this study is bringing us closer to understanding the molecular and cellular mechanisms in neurons from patients with neuropsychiatric disease, and by doing so they are pointing to potential new therapeutic targets," Dr. Sergiu P. Pasca of Stanford University, in California, told Reuters Health by email. The 22q11.2 deletion syndrome is associated with an estimated 20-fold increase in the risk of schizophrenia and confers a 30% to 40% risk for autism-spectrum disorder (ASD). The functional neuronal defects in people with 22q11.2 deletion syndrome have not been investigated. To investigate, Dr. Pasca and colleagues generated pluripotent stem cells from 15 individuals with 22q11.2 deletion syndrome and 15 cont...

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