Belmont SURFS

Utilizing Acarbose as a model for Pompe’s Disease

Pompe’s Disease is a rare genetic disorder that primarily affects the muscles, heart, and liver. Pompe’s Disease is a Lysosomal Storage Disorder (LSD) and is described as an abnormal amount of build-up of materials in the cells due to deficiencies within the enzyme that is supposed to transport those. Enzyme replacement therapy paired with human a-glucosidase is the only known treatment for this disease that has been slowly helping patients diagnosed with this disorder get the help they need. Pompe is typically fatal for those diagnosed with it; In Pompe’s Disease, glycogen accumulates in the lysosomes. This disease is fatal because it affects the heart as well as skeletal muscle cells. This disorder is caused by mutations in a gene that creates an enzyme called acid alpha glucosidase (GAA). GAA normally is used to break down glycogen into a simple sugar called glucose. To see how cells are affected in Pompe’s Disease, we induced Pompe’s in COS-7 cells using Acarbose and used multiple imaging techniques to observe changes in lysosomal behavior within the cells. We had multiple trials of imaging different concentrations of Acarbose to determine which concentration was the most ideal, without damaging the cells. Working in the lab for the past few weeks has allowed me to gain more experience and become more comfortable around new technology and equipment, while working with new people. I learned the importance of patience and that in science, there will always be questions that will not be answered right away.