Deleterious effects of neuronal accumulation of glycogen in flies and mice

• DOI: 10.1002/emmm.201200241
• Publication Date: 2012-05-02T07:57:32Z
• Authors: Jordi Duran; María Florencia Tevy; Mar Garcia‐Rocha; Joaquim Calbó; Marco Milán; Joan J. Guinovart
• Keywords: Lafora Disease; Glycogen debranching enzyme

Abstract Under physiological conditions, most neurons keep glycogen synthase (GS) in an inactive form and do not show detectable levels of glycogen. Nevertheless, aberrant accumulation is a hallmark patients suffering from Lafora disease or other polyglucosan disorders. Although these diseases are associated with mutations genes involved metabolism, the role remains elusive. Here, we generated mouse fly models expressing active GS to force neuronal We present evidence that progressive Drosophila leads loss, locomotion defects reduced lifespan. Our results highlight as direct cause neurodegeneration.