Projects Archive - Foundation for Prader-Willi Research | Obesity and Energy Balance

The gut microbiome in Prader-Willi syndrome

Abstract Prader-Willi syndrome individuals show impaired social behaviors and altered oxytocin levels in the brain, but the reason for this remains unknown. Here we will test whether changes in the gut bacterial content in PWS could perturb social behaviors and related changes in oxytocin. In addition, we will examine whether a probiotic bacteria false

Loss of MAGEL2 and hypotonia in Prader-Willi syndrome

Children with PWS are hypotonic (floppy) at birth. Their poor muscle tone causes delays in sitting and walking and contributes to orthopedic problems such as scoliosis. Reduced endurance lowers the number of calories they can consume per day to manage their body weight, and impairs their quality of life. Treatments that build muscle mass or false

Mitochondrial Complex I dysfunction in Prader Willi Syndrome: A new therapeutic target

Children with Prader-Willi syndrome suffer from very low muscle tone, growth delay, short stature, developmental delay, muscle weakness and exercise intolerance. Studies have suggested that there is a problem with energy metabolism in PWS but what kind of problem this is and how this leads to PWS is not clear at the present time. Many PWS patients false

Linking the cellular function of MAGEL-2 to its role in PWS

Background: MAGEL-2 is a gene frequently deleted or mutated in individuals affected with PWS. Furthermore, mice lacking MAGEL-2 display symptoms similar to those seen in PWS children. However, a critical barrier to our understanding of MAGEL-2’s link to PWS has been determining its function within cells. Recently, my group has solved this false

Nutritional aspects of PWS and childhood obesity: a metabolomics approach

In Prader-Willi syndrome (PWS) the progression from poor appetite and failure-to-thrive (FTT) to obesity and voracious appetite is complex and takes several years. We have recently shown that there are 6 distinct post-natal nutritional phases in PWS. By looking at the end products of cellular processes in individuals with PWS before and after the false

Gut microbiome in individuals with PWS

Prader-willi syndrome is a genetic disorder caused by loss of a portion of a copy of chromosome 15.  Common features include early problems with muscle weakness and feeding followed by occult weight gain without an increase in food consumption beginning during late infancy/early toddler period prior to the onset of hyperphagia.  Recent research false

Investigation of ghrelin-o-acyltransferase as a target for treating hyperphagia in Prader-Willi syndrome (Year 1)

Obesity and insatiable appetite (hyperphagia) are among the most serious symptoms experienced by Prader-Willi syndrome (PWS) patients.  While many of the causes underlying PWS symptoms remain unknown, the discovery of the protein hormone ghrelin and its role in controlling appetite has led researchers to investigate the possible role of ghrelin in false

Establishment of an in vitro model of muscle cells derived from primary fibroblasts to study dysregulation of translational capacity in PWS

Previous results showed that our physical rehabilitation program could induce weight loss in a group of adult PWS patients, but failed to improve their muscular mass (Grolla et al.2010). The loss of muscle mass affects elderly, obese and PWS patients leading to frailty and impaired quality of life. It is becoming apparent, using animal models, false

Targeting the peripheral endocanniabinoid system for the treatment of obesity in a mouse model of PWS

Extreme obesity is one of the major health problems related to Prader-Willi syndrome (PWS), yet there are few effective medications. Endocannabinoids (eCBs) are lipid signaling molecules that act on a cellular receptor, called the CB1 receptor. This receptor is present in the brain and in peripheral tissues, where it also recognizes the false

Evidence based approach to dietary management of PWS

Lay Abstract: Prader-Willi Syndrome (PWS) is a genetic disease characterized by failure to thrive and low muscle tone during infancy, followed by food-seeking, insatiable appetite and progressive obesity in childhood. The resulting increases in total body fat and decreases in muscle mass lead to metabolic problems such as diabetes and heart false

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