Title |
Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function
|
---|---|
Published in |
Schizophrenia, August 2016
|
DOI | 10.1038/npjschz.2016.24 |
Pubmed ID | |
Authors |
Pippa A Thomson, Barbara Duff, Douglas H R Blackwood, Liana Romaniuk, Andrew Watson, Heather C Whalley, Xiang Li, Maria R Dauvermann, T William J Moorhead, Catherine Bois, Niamh M Ryan, Holly Redpath, Lynsey Hall, Stewart W Morris, Edwin J R van Beek, Neil Roberts, David J Porteous, David St. Clair, Brandon Whitcher, John Dunlop, Nicholas J Brandon, Zoë A Hughes, Jeremy Hall, Andrew McIntosh, Stephen M Lawrie |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 11 | 50% |
United States | 4 | 18% |
Brazil | 1 | 5% |
Ireland | 1 | 5% |
Unknown | 5 | 23% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 16 | 73% |
Scientists | 4 | 18% |
Science communicators (journalists, bloggers, editors) | 2 | 9% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Israel | 1 | 1% |
Unknown | 68 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 14 | 20% |
Researcher | 10 | 14% |
Student > Bachelor | 10 | 14% |
Student > Master | 9 | 13% |
Professor | 3 | 4% |
Other | 10 | 14% |
Unknown | 13 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Psychology | 15 | 22% |
Neuroscience | 13 | 19% |
Agricultural and Biological Sciences | 11 | 16% |
Biochemistry, Genetics and Molecular Biology | 7 | 10% |
Medicine and Dentistry | 4 | 6% |
Other | 2 | 3% |
Unknown | 17 | 25% |