Oxytocin, vasopressin, and Williams syndrome: epigenetic effects on abnormal social behavior.

Alicia K. Smith,Brian W. Haas

doi:10.3389/fgene.2015.00028

Abstract

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.

Highlights

OXYTOCIN, VASOPRESSIN, AND SOCIAL BEHAVIOR Oxytocin (OT) and vasopressin (AVP) are neurohypophysial hormones primarily synthesized within the hypothalamus of the brain
In spite of a mass of empirical data showing that the OT and AVP systems are perturbed in neurodevelopmental and mood disorders, the mechanisms that lead to disrupted OT and AVP function are currently unclear
REGULATION OF OXYTOCIN AND VASOPRESSIN EXPRESSION One way to improve the understanding of the OT and AVP systems is to investigate genes that influence the function of OT and AVP

Summary

Introduction

OXYTOCIN, VASOPRESSIN, AND SOCIAL BEHAVIOR Oxytocin (OT) and vasopressin (AVP) are neurohypophysial hormones primarily synthesized within the hypothalamus of the brain. REGULATION OF OXYTOCIN AND VASOPRESSIN EXPRESSION One way to improve the understanding of the OT and AVP systems is to investigate genes that influence the function of OT and AVP. Expression profiles and/or commonly occurring variants [e.g., single nucleotide polymorphisms (SNPs)] of OXTR and AVPR1A are associated with individual differences in human social behavior, emotion processing, and many psychiatric conditions.

Results

Conclusion