Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes

Prader-Willi syndrome is characterized by severe hypotonia in infancy, with decreased lean mass and increased fat mass in childhood followed by severe hyperphagia and consequent obesity. Scoliosis and other orthopaedic manifestations of hypotonia are common in children with Prader-Willi syndrome and cause significant morbidity. The relationships among hypotonia, reduced muscle mass and scoliosis have been difficult to establish. Inactivating mutations in one Prader-Willi syndrome candidate gene, MAGEL2, cause a Prader-Willi-like syndrome called Schaaf-Yang syndrome, highlighting the importance of loss of MAGEL2 in Prader-Willi syndrome phenotypes. Gene-targeted mice lacking Magel2 have excess fat and decreased muscle, recapitulating altered body composition in Prader-Willi syndrome. We now demonstrate that Magel2 is expressed in the developing musculoskeletal system, and that loss of Magel2 causes muscle-related phenotypes in mice consistent with atrophy caused by altered autophagy. Magel2-null mice serve as a preclinical model for therapies targeting muscle structure and function in children lacking MAGEL2 diagnosed with Prader-Willi or Schaaf-Yang syndrome.
Source: Human Molecular Genetics - Category: Genetics & Stem Cells Authors: Tags: ARTICLES Source Type: research

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Our world is amidst a crucial overweight and obesity pandemic that continues to grow, with 2 billion of the world ’s population overweight and approximately 700 million adults with obesity.1 Once thought to be a disease of the rich and affluent, weight-related and metabolic diseases are on the rise across all socioeconomic classes and residential settings. The enduring physiologic and hormonal changes that oc cur with weight gain make sustainable weight loss with just diet and exercise, commonly known as lifestyle modification, not feasible for most people.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Original article Source Type: research
In this study, we explored the effect of β -Lapachone ( β L), a compound obtained from the bark of the lapacho tree, against obesity. In vivo administration of β L into either high fat diet (HFD)-induced obese C57BL6 mice and genetically obese Lepr -∕- mice prevented body weight gain, which was associated with tissue weight loss of white adipose tissue (WAT). In addition, β L elevated thermogenic proteins including uncoupling protein 1 (UCP1) and mitochondrial count in BAT and human adipose tissue-derived mesenchymal stem cells (hAMSCs). β L also induced AMP-activated protein kinase (AMPK) phosph...
Source: The American Journal of Chinese Medicine - Category: Complementary Medicine Authors: Tags: Am J Chin Med Source Type: research
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Source: Food Research International - Category: Food Science Source Type: research
Authors: Gan X, Xu W, Yu K Abstract Background: With the rapid economy development of China, the overweight and obesity rates of school-age children and adolescents in China have been on the rise. The purpose of this study is to explore how powerful an influence economic growth has on the weight of children and adolescents and examine the relationship between China's macroeconomic development and weight of children and adolescents in the past 30 years using provincial panel data collected from more than 1 million children and adolescents. Methods: Panel data from seven longitudinal surveys (1985, 1991, 1995, 2000, ...
Source: Childhood Obesity - Category: Eating Disorders & Weight Management Tags: Child Obes Source Type: research
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Source: Childhood Obesity - Category: Eating Disorders & Weight Management Tags: Child Obes Source Type: research
Publication date: Available online 17 October 2019Source: Physiology &BehaviorAuthor(s): Janelle A Skinner, Manohar L Garg, Christopher V Dayas, Tracy L BurrowsABSTRACTThe neuropeptide oxytocin is best known for its role during parturition and the milk-let down reflex. Recent evidence identifies a role for oxytocin in eating behaviour. After oxytocin administration, caloric intake is reduced with stronger inhibitory effects in individuals with obesity. Whether the experience of visual food cues affects secretion or circulating levels of oxytocin is unknown. This pilot study had three aims: 1) to measure fasting appetit...
Source: Physiology and Behavior - Category: Physiology Source Type: research
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Source: Journal of Bioscience and Bioengineering - Category: Biomedical Science Source Type: research
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Source: Revista Paulista de Pediatria - Category: Pediatrics Source Type: research
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Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: 7.1 Paediatric Respiratory Physiology and Sleep Source Type: research
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Source: Paediatric Respiratory Reviews - Category: Respiratory Medicine Authors: Tags: Review Source Type: research
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