Oxytocin and vasopressin in autism and genetic syndromes

Tal Levin-Decanini, Sunday M. Francis, Angela Sagar, Wensheng Liu, C. Sue Carter, Suma Jacob

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptides found in many mammalian species, including humans. These neuropeptides are associated with a range of social behaviors and their dysregulation has been associated with deficits in social behavior. In particular, the OT neuropeptide system has been investigated in Autism Spectrum Disorder (ASD), as well as in Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X Syndrome (FXS), all of which are characterized by marked social deficits. PWS, WS and FXS are caused by identified genetic mutations and provide insight into the developmental influences of the OT system. In particular, FXS is caused by a mutation in a single gene and up to 47 % of patients with FXS are diagnosed with ASD or also have autism related behaviors. Animal models of genetic neurodevelopmental disorders (NDD) are becoming a valuable tool to examine the role and relatedness of OT and AVP in the developing brain. We provide an example of how OT and AVP systems are altered with a mutation in the mouse Fragile X mental retardation 1 (Fmr1) gene which leads to FXS-like symptoms in Fmr1 knockout (KO) mice. By studying the OT and AVP systems in these rare disorders, we may further understand their mechanisms of action in ASD and in typical development. This chapter will summarize the current data pertaining to these NDD and the systems of OT and AVP.

Original languageEnglish (US)
Title of host publicationThe Molecular Basis of Autism
PublisherSpringer New York
Pages275-306
Number of pages32
ISBN (Electronic)9781493921904
ISBN (Print)9781493921898
DOIs
StatePublished - Jan 1 2015

Bibliographical note

Funding Information:
Acknowledgements This work was supported in part by NIH K23MH082121 (SJ). The authors would also like to thank Jeanine Leary and Jennifer Speak for their assistance in preparing the text.

Publisher Copyright:
© 2015, Springer Science+Business Media New York.

Keywords

  • Autism
  • Fragile X
  • Oxytocin
  • Prader-Willi
  • Vasopressin
  • Williams

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