Flowchart of the study by Xu et al. The authors investigated the role of miR-185 in the 22q11.2 microdeletion, a microRNA affected by the deletion to a higher extent than expected. One target of miR-185 is Mirta22, which is downregulated due to miR-185 expression. Upregulation of this gene, mimicking the effects of the 22q11.2 phenotype, recapitulates some of the phenotypes seen in the 22q11.2 mouse model.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany