IPRD funded research by Elizabeth Hammock
Prader-Willi syndrome (PWS) is a pediatric rare disease caused by lack of expression of paternally inherited alleles in a gene cluster in an imprinting center on chromosome 15q11.2-q13. Symptoms can be present prenatally such as low fetal movement and slow growth. Newborns show poor oromotor control of sucking behaviors, hypophagia and general hypotonia. During development, the clinical presentation shifts from hypophagia to insatiable hyperphagia. In addition, PWS patients have significant cognitive and behavioral challenges. Changes in hypothalamic oxytocin levels are thought to be responsible for feeding and social behavior differences. This research focuses on the role of oxytocin receptor signaling in peripheral sensory neurons and the activity-dependent development of the hypothalamus.
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