Abstract
Development of a Therapy for a Severe Form of Muscular Dystrophy
Christopher Turner
PhD candidate, University of Adelaide and Lysosomal Diseases Research Unit, Children, Youth, and Women’s Health Service
Pompe disease is a muscle- wasting disorder that results from the body’s inability to use a sugar called glycogen effectively. In Pompe disease glycogen remains stored in a structure called the lysosome, which is present in each of the body’s cells. Pompe disease is inherited and progressive, meaning that symptoms worsen with time. In babies, disease progress is rapid and the child usually dies within six-months of birth; in less severely affected patients, the progressive wasting of muscle tissue leads to symptoms such as loss of ability to walk, swallow, or control bowel/bladder, heart problems, and severe breathing problems that require the aid of a respirator.
My PhD aims to trial a new and innovative therapy to reduce the accumulation of glycogen in the lysosome of each cell. This involves the use of various compounds to stimulate the removal of glycogen from the lysosome to other parts of the cell where it can be broken down and utilised normally. Thus far, I have shown that a compound called calcimycin is successful in removing significant amounts of glycogen from the lysosome. This key finding suggests that this therapy may be suitable for treating Pompe patients.
