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Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function

Thomson, Pippa A., Duff, Barbara, Blackwood, Douglas H. R., Romaniuk, Liana, Watson, Andrew, Whalley, Heather C., Li, Xiang, Dauvermann, Maria R., Moorhead, T. William J., Bois, Catherine, Ryan, Niamh M., Redpath, Holly, Hall, Lynsey, Morris, Stewart W., van Beek, Edwin J. R., Roberts, Neil, Porteous, David J., St. Clair, David, Whitcher, Brandon, Dunlop, John, Brandon, Nicholas J., Hughes, Zoë A, Hall, Jeremy ORCID:, McIntosh, Andrew and Lawrie, Stephen M. 2016. Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function. npj Schizophrenia 2 , 16024. 10.1038/npjschz.2016.24

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Rare genetic variants of large effect can help elucidate the pathophysiology of brain disorders. Here we expand the clinical and genetic analyses of a family with a (1;11)(q42;q14.3) translocation multiply affected by major psychiatric illness and test the effect of the translocation on the structure and function of prefrontal, and temporal brain regions. The translocation showed significant linkage (LOD score 6.1) with a clinical phenotype that included schizophrenia, schizoaffective disorder, bipolar disorder, and recurrent major depressive disorder. Translocation carriers showed reduced cortical thickness in the left temporal lobe, which correlated with general psychopathology and positive psychotic symptom severity. They showed reduced gyrification in prefrontal cortex, which correlated with general psychopathology severity. Translocation carriers also showed significantly increased activation in the caudate nucleus on increasing verbal working memory load, as well as statistically significant reductions in the right dorsolateral prefrontal cortex glutamate concentrations. These findings confirm that the t(1;11) translocation is associated with a significantly increased risk of major psychiatric disorder and suggest a general vulnerability to psychopathology through altered cortical structure and function, and decreased glutamate levels.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Nature Publishing Group
ISSN: 2334-265X
Date of First Compliant Deposit: 10 November 2016
Date of Acceptance: 1 July 2016
Last Modified: 05 May 2023 22:34

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