Researchers at Nagoya University and others have revealed for the first time that genomic copy number variations (CNVs) are involved in the risk of developing eating disorders.

 Previous epidemiological studies have suggested that genetic factors are strongly involved in the development of eating disorders, and that genetic factors may partially overlap with those of other psychiatric disorders.In fact, CNVs associated with the risk of mental illness have been found in some people with eating disorders.

 However, no clear conclusions regarding the relationship between eating disorders and CNVs have yet been obtained.Therefore, in this study, we analyzed CNVs in patients with eating disorders (70 cases), focused on risk CNVs known to be associated with neurodevelopmental disorders, and compared them with healthy subjects.In addition, all the research subjects are Japanese women.

 As a result of the analysis, 10% (7/70) of patients with eating disorders were found to have a risk CNV for neurodevelopmental disorders, which was significantly associated with the risk of developing an eating disorder compared to 2.3% (24/1036) of healthy subjects. It was confirmed that

 They also found that many of the CNVs found in patients with eating disorders affect genes that function at neuronal synapses.Gene set analysis also revealed that CNVs in patients with eating disorders were significantly accumulated in synapse-related gene clusters, strongly suggesting that synaptic dysfunction is involved in the pathogenesis of eating disorders.

 This study revealed that eating disorders and neurodevelopmental disorders share common genetic factors, and that synaptic dysfunction is involved in the pathogenesis of eating disorders.It is hoped that further advances in the understanding of the pathology of eating disorders from the perspective of synaptic dysfunction will contribute to the development of early diagnostic methods for eating disorders and the development of novel therapeutic agents.

Paper information:[Psychiatry and Clinical Neurosciences] Contribution of copy number variations to the risk of severe eating disorders

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