MAGEL2 is one of the key genes involved in Prader-Willi syndrome and the cause of another rare syndrome: Schaaf-Yang syndrome. The Foundation for Prader-Willi Research (FPWR) has funded a number of studies to understand how MAGEL2 normally functions, and how loss of MAGEL2 function causes the symptoms associated with SYS and PWS. Here are a few studies that have been funded:
- The MAGEL2 Phenotype in comparison to classic Prader-Willi Syndrome
- Loss of Magel2 and Hypotonia in Prader-Willi Syndrome
- Oxytocin treatment in Magel2 deficient mice
- Linking the cellular function of Magel2 to its role in PWS
- Evaluation of autism-like behaviors in mice deficient for Magel2
- How does Oxytocin cure early feeding and adult social behavior alterations in MAGEL2 deficient mice
- Injectable protein based gene activation therapy for PWS
- Inhibitory circuits and transmission in the hypothalamus in a mouse model of PWS
- Development of appetite-related neural circuits in a mouse model
- Oxytocin actions on prefrontal cortical circuits in a mouse model
- Development of leptin disregulation in a mouse model of obesity in PWS.
Click here to learn more about Schaaf-Yang syndrome.