Evaluation of Aberrant Autophagy and Myogenesis in GNE Myopathy

Driven by a lack of treatments for GNE myopathy, Dr. Rebecca Schmitt aims to produce a basic understanding of the molecular pathways involved in how mutations in the GNE gene lead to the development of the clinical phenotype and potential therapeutic strategies. She says that little is understood about the mechanism of GNE myopathy, besides that mutations in the gene GNE result in the clinical pathology.

In her study, she and her team utilize a patient-derived cell-based model, molecular analyses, and genetic tools to investigate mechanisms and therapeutic avenues. “Specifically, we are studying the role of autophagy – a process used to remove unwanted components in a cell – in which we have discovered activation of autophagy can improve muscle health in the GNE myopathy patient-derived samples,” she says. Long-term, she hopes this research allows investigations into potential therapeutic strategies that can be used to improve patient quality of life.