Oxytocin and AVP

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Oxytocin Vassopressin and ASD

Neural Systemrelated brain structuresGenetics
Oxytocin and AVPSocial Memoryamygdala
midbrain
dorsal striatum
Avpr-1
Otr contained in 3p25
SNPs rs2254298 and rs53576
PMID 19129382PMID 18498743, PMID 15821089, PMID 7735292, PMID 15589267, PMID 11240311PMID 12082568 PMID 15098001 PMID 16520824 PMID 16205737 PMID 15647115 PMID 16288458 PMID 15992526 PMID 17893705

Description

Oxytocin(OT) and arginine vassopressin (AVP) have been considered to play a key role in the development of several mental disorders, such as social anxiety disorders, obsessive-compulsive disorder, borderline personality disorder, depression, social deficits associated with ASD, and other mental disorders. Some social deficits in ASD mimic the behavior of animals that lack OT, causing some to hypothesize that there may be a link between ASD and OT/AVP. Recent studies have emphasized the 3p25 region containing the Otr gene as a promising linkage site for ASD, as well as two single nucleotide polymorphisms (rs2254298 460 and rs53576 and Avpr-1a genes).1

OT has been implicated in enabling non-human mammals to overcome their natural avoidance of proximity and to inhibit defensive behavior. AVP has been shown to be involved in male-typical social behaviors, including aggression, pair-bond formation, scent marking, and courtship in animals. Both OT and AVP are distributed throughout several brain regions in relation with central nervous control of stress and anxiety and with social behavior, such as parental control, pair-bonding, social memory, and social aggression.1

Additionally, OT shows significant binding in the limbic system for humans and there is elevated AVP expression in the hypothalamic paraventricular nucleous which is involved with increased behavioral and neuroendocrine anxiety levels. Most studies on OT and AVP have been done on animal models but some recent studies have found social and stress-related effects from both neuropeptides in humans.There have been studies which support a role of OT in facial processing and interpersonal communication. The behavioral effects of neuropeptides in humans have been examined through correlational studies measuring OT or AVP in urine, saliva, blood, or CSF, genotyping of receptor polymorphisms, and experimental studies manipulating the availability of OT or AVP using intravenous or intranasal methods. However, results have been inconsistent. 1

Anaphase IF.gifGenetics

A study to identify CNV variants on 119 probands from multiplex autism families found a deletion in the oxytocin receptor gene OXTR in one proband. DNA methylation analysis of the mother and sibling found increased methylation of the promoter region of the OXTR gene in both the mother and sibling. In particular, a single dinucleotide within the region independently had a statstically significant increase in methylation in the and temporal cortext of autism patients as compared to controls. Since there are similar methylation profiles in both the temporal cortex and the peripheral blood suggests that the methylation statuses were established early on in development. Methylation status of this gene may then be senstive to enviromental cues during the first few weeks of pregnancy.2

It is possible that methylation status can have an affect on the development of autism. 79% of autism cases have decreased MECP2 expression in the frontal cortex, and the decrease in MECP2 expression correlates with increased abberrant DNA methylation.2 This has raised the possibility that there may be environmental factors which can reprogram the epigenotype of the embryo, thereby changing the methylation status. 3


Animal Models

Criticisms

Tests for Oxytocin and AVP

The behavioral effects of neuropeptides in humans have been examined through correlational studies measuring OT or AVP in

  1. urine, saliva, blood, or CSF,
  2. genotyping of receptor polymorphisms
  3. experimental studies manipulating the availability of OT or AVP using intravenous or intranasal methods.





Genetics
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References

1. Heinrichs, M et. al. Oxytocin, vasopressin, and human social behavior. Front Neuroendocrinol. 2009 Jun 6 PMID 19505497

2. Gregory, SG et. al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med. 2009 Oct 22;7:62. PMID 19845972

3. Gurrieri, F et. al. Defective oxytocin function: a clue to understanding the cause of autism? BMC Med. 2009 Oct 22;7:63. PMID 19845973

3.