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Neurogenetics

Unusual suspects

Nature Reviews Neuroscience volume 9, pages 326–327 (2008)Cite this article

The proposal that rare structural mutations, each of which would be found in only a small number of individuals, might contribute to neurodevelopmental disorders stems from recent studies that linked this type of variation to autism spectrum disorders. In this new study, the authors screened the genomic DNA of 150 individuals with schizophrenia and 268 controls for novel deletions or duplications (ones not previously described in the literature or in existing databases) that disrupted genes, using microarray analysis. Individuals with schizophrenia were three times more likely to carry such mutations than controls, or four times more likely if they developed symptoms of schizophrenia before they were 18 years old.

Next, the authors considered the possible functional effects of these mutations. They found that many of the mutated genes were linked to pathways that are involved in brain development. The pathways highlighted included neuregulin signalling pathways, which are linked to neuronal migration and synapse formation, and glutamate-reuptake mechanisms, which might be involved in the development of excitatory circuits. Both pathways have previously been proposed to be linked to schizophrenia, supporting the idea that the rare mutations might have a causative role in the disorder.

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ORIGINAL RESEARCH PAPER

  1. Walsh, T. et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 27 Mar 2008 (doi: 10.1126/science.1155174)

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Authors
  1. Katherine Whalley
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Whalley, K. Unusual suspects. Nat Rev Neurosci 9, 326–327 (2008). https://doi.org/10.1038/nrn2380

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  • DOI: https://doi.org/10.1038/nrn2380

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