Research Blog

Several recent studies have begun to look more carefully at the causes of death in PWS, particularly in cases where death was sudden and/or unexpected. A review of 64 cases of death in children with PWS noted a high occurrence of respiratory infections in cases with fatal outcomes [Tauber 2008 , and references therein]. In addition, there have previously been suggestions in the medical literature that people with PWS may have unrecognized deficiencies in the adrenal system [Stevenson 2003 , and references therein]. Since a properly functioning adrenal system is critical during times of acute illness, some authors have speculated that deficiencies in the adrenal system may contribute to unexpected deaths in PWS. A new study begins to address the function of the adrenal system in individuals with PWS, and suggests that this is an area deserving of more attention.
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Leptin is a hormone that is derived from fat tissues which provides information to the brain about energy stores. Animals, including humans, that lack leptin display substantial hyperphagia that can be reversed with leptin treatment. How do higher brain centers interpret the messages that leptin communicates? How might this kind of information impact PWS, where hyperphagia is prominent and may be life threatening?

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    Obese individuals often have a deficiency in peptide YY (PYY), a hormone that is produced by endocrine "L" cells of the lower gastrointestinal tract, the stomach and the brainstem. Low levels of PYY may be a predisposing factor to the development of obesity, and administration of PYY inhibits food intake in animals, including humans, thereby regulating body weight and body composition. The study of PYY is particularly of interest to the PWS community, as this study and others like it suggest that PYY treatment could be beneficial to those who suffer from obesity, a problem in PWS that can be life threatening. [ Read more . . . ]

  NECDIN is a gene that is deleted or inactivated in those with Prader-Willi syndrome , as it is found on chromosome 15 in the 15q11-q13 region. The gene product, Necdin, can be knocked out in mice, and a model for PWS thus emerges that displays some of the same respiratory and abnormal sleep breathing patterns that are often seen in humans with PWS. Necdin acts to stop cell death during the normal process of cell death in cells. The authors hypothesize that Necdin deficiency in mice (and perhaps even in humans) may result from deficits in the maturation and proper functioning of networks in the brain and set out to examine the relationship between Necdin and the neurotransmitter serotonin (5-HT) to better describe how 5-HT may affect Necdin-modulated breathing problems (Necdin Plays a Role in the Serotonergic Modulation of the Mouse Respiratory Network: Implication for PWS , Zanella et al., The Jl of Neurosci, 2008).
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Studies of the neural circuitry of food regulation has provided ample evidence that the hypothalamus (a structure the size of four peas which is suspended above the pituitary gland in the middle of the brain) plays a critical role in the hyperphagia seen in PWS. The hypothalamus is known to receive input from many other areas of the brain, and neuroimaging studies have begun to flesh out the precise connections of food-related information transfer in the brain, particularly in PWS.
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Obsessive-Compulsive Disorder (OCD) affects about 2% of the [ Read more . . . ]

[Contributed by Mayim Bialik, Ph.D.]   The Sentence Completion and Three Wishes Tasks: One of the great challenges in studies of individuals with PWS and others with cognitive or linguis [ Read more . . . ]

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Individuals with PWS are, in many ways, perfect subjects for studying the effectiveness of candidate obesity drugs. [ Read more . . . ]