Alejandra Manjarrez in The Scientist:
Although they are rare, noninherited mutations can have a large impact. According to a new study published in Cell Genomics, somatic mutations occurring during early development of the human embryo may contribute to some cases of schizophrenia.1 Specifically, the authors found recurrent mutations disrupting two genes, one of which previously linked to the disorder.
The mutations discovered by the research team are “rare variants that affect a few people but may have a very large effect size,” said Thomas Burne, a neuroscientist at the Queensland Brain Institute who did not participate in this study. Burne noted that this is not going to explain how people develop schizophrenia in general, but it might be important for precision medicine and for prompting future discoveries.
Somatic mutations contribute to other psychiatric disorders such as autism and focal epilepsy.2,3 “It seemed like it was worth exploring whether something similar might be going on in schizophrenia,” said Christopher Walsh, a neurogeneticist at the Boston Children’s Hospital and coauthor of the paper. To test this hypothesis, Walsh and his colleagues analyzed the genomes of blood samples from 12,834 patients diagnosed with schizophrenia and compared them with samples from 11,648 control individuals.