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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.

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