A study, published on June 12, 2012, in PLoS One, provides perhaps the first evidence that oxytocin and vasopressin are both dysregulated in Williams syndrome.
According to Li Dai et al., the authors of the PLoS One study:
Social and emotional responses are so fundamental to human behavior that they are often taken for granted.
The genetic and neurobiological bases of social behavior are largely unknown as are the mechanisms for disruptions in social behavior and emotional regulation that appear throughout the lifespan as features of mental illnesses.
Recent evidence indicates, however, that human emotion and social behavior are linked to neuroendocrine function, and two hypothalamic neuropeptides, oxytocin (OT) and arginine vasopressin (AVP) appear to regulate reproduction, social behaviors and emotionality in mammals.
Oxytocin is a peptide hormone and neuropeptide normally produced in the hypothalamus and released by the posterior pituitary. Oxytocin is released into the bloodstream as a hormone in response to sexual activity and during labour. The uterine-contracting properties of the principle that would later be named oxytocin were discovered by British pharmacologist Sir Henry Dale in 1906, and is best known for its role in inducing labor and lactation. In the 1920s, oxytocin and vasopressin were isolated from pituitary tissue and given their current names.
Williams Syndrome (WS) is a neurodevelopmental disorder characterized by profound disturbances in social relationships. Resulting from a hemizygous deletion of ~25 genes on chromosome 7q11.23, a unique and robust behavioral characteristic of WS is an increased social drive particularly toward strangers, manifesting as a strength in processing social over non-social stimuli, engaging language, increased social gaze, and empathic, friendly, and emotional personality.
The strikingly gregarious personality and an increased approach to strangers is accompanied by enhanced emotional reactivity to music, high levels of generalized anxiety and poor social judgment. Music is known potent emotional stimulus, and interestingly, WS subjects show striking interest in and increased emotional and amygdalar responses to music.
In the PLoS One study, Li Dai and colleagues from the Center for Integrated Neuroscience and Human Behavior, University of Utah, Salt Lake City, Utah, USA, studied blood levels of OT and AVP in WS and controls at baseline, and at multiple time-points following a positive emotional intervention (music), and to a well-characterized negative stressor, cold.
The authors found that the basal OT and to a lesser extent AVP, are elevated in WS, and are related to measures of WS social behavior. In addition, they report that emotional (music) and physically aversive (cold) stimuli caused an exaggerated release of OT and AVP. Of note, higher levels of basal OT were correlated with increased approach to strangers.
These results indicate that in WS, the neurobiological mechanisms that underlie intensified emotional responses to music and possibly social behavior, may in part involve the dysregulated synthesis or release of both OT and AVP from the hypothalamic neurohypophyseal system.
They may also indicate a paradigm shift toward understanding OT as an endogenous modulator of human behaviors that may not always be adaptive in daily life.
Source: PLoS One; June 12, 2012; http://dx.doi.org/10.1371/journal.pone.0038513 Read more: PLoS One See also the BrainImmune’s commentary about this article by Vincent Geenen.