A numbers game – Copy Number Variations in schizophrenia

GABA/glutamate. Even though large-scale Copy Number Variation (CNV) studies in schizophrenia, autism, and intellectual disability were en vogue only a few years ago, it became quiet around these type of studies more recently. Now, a recent study in Neuron revisits CNV analysis in schizophrenia with the largest sample size to date, cancelling out much of the noise that smaller studies had to fight with. Find out how the authors managed to demonstrate a contribution of the GABAergic and glutamatergic system to schizophrenia by sheer numbers. Continue reading

Dysregulation of a microRNA in the 22q11.2 microdeletion

Genotype to phenotype. Recurrent microdeletions at various sites in the human genome are known risk factors for a broad range of neurodevelopmental disorders including epilepsy, autism, intellectual disability and schizophrenia. Despite the fact that the pathogenic role is well established, the mechanisms linking the microdeletion to the neurodevelopmental phenotype remain obscure. In contrast to monogenic disorders, various genes are included and functional studies are difficult. Now, a recent paper in Cell examines the role of a specific microRNA that is dysregulated in the 22q11.2 microdeletion. The results are surprising. Continue reading