Oxytocin, vasopressin, and Williams syndrome: epigenetic effects on abnormal social behavior.
Williams syndrome (WS) is a condition caused by a deletion of ∼26-28 genes on chromosome 7q11.23 often characterized by abnormal social behavior and disrupted oxytocin (OT) and vasopressin (AVP) functioning. The observation that individuals with WS exhibit OT and AVP dysregulation is compelling. There is currently a lack of evidence that any of the genes typically deleted in WS have any direct effect on either OT or AVP. In this perspective article, we present a novel epigenetic model describing how DNA methylation may impact the expression of key genes within the OT and AVP systems, which may ultimately influence the social behavior observed in WS. We draw support from data pooled from a prior empirical research study (Henrichsen et al., 2011), demonstrating that OXTR is overexpressed in WS. These preliminary findings may create new opportunities to target the OT and AVP systems with the specific goal of improving outcomes in WS and other psychiatric conditions.
Department of Psychology, University of Georgia , Athens, GA, USA ; Interdisciplinary Neuroscience Graduate Program, University of Georgia , Athens, GA, USA.
Brian W
BW
Haas
Department of Psychiatry and Behavioral Sciences, School of Medicine, Emory University , Atlanta, GA, USA.
Alicia K
AK
Smith
OXTR; Williams syndrome; genetics; oxytocin; social behavior