Guaiacol improves outcomes in adult polyglucosan body disease model скачать в хорошем качестве

Guaiacol improves outcomes in adult polyglucosan body disease model

Adult polyglucosan body disease (APBD) is a glycogen storage disorder characterized by the accumulation of polyglucosan bodies in muscle, nerve, and other tissue as the result of mutations in glycogen-branching enzyme 1. APBD is characterized by adult-onset neurodegeneration, and recent evidence suggests that reduction of glucose 6-phosphate–stimulated glycogen synthase (GYS) activity may be beneficial. In this episode, Or Kakhlon and colleagues screened FDA-approved compounds for those able to reduce GYS activity and polyglucosan accumulation in APBD fibroblasts. Guaiacol emerged as a potential candidate from this screen and improved grip strength and increased life span in murine APBD models. These improvements corresponded with reduced polyglucosans in peripheral nerves, liver, and heart. Together, these results support further exploration of guaiacol for treating APBD.