My research project is aimed at characterizing Pompe disease in 3D skeletal muscle models. Pompe disease is a rare autosomal recessive lysosomal storage disease caused by mutations in the GAA gene, which encodes the enzyme acid α-glucosidase. This enzyme is essential for breaking down glycogen within lysosomes. As a result of its impairment, glycogen accumulates in multiple tissues including the heart, brain and skeletal muscle. The severity and age of onset of Pompe disease can vary widely depending on the level of residual enzymatic activity. The skeletal muscle tissue is mainly affected by the glycogen accumulation resulting in the loss of muscle structure and function.
By combining hiPSCs-derived myogenic progenitor cells and muscle on-a-chip system, I will be able to obtain 3D skeletal muscle models for Pompe disease which will be used to analyze many different readouts including transcriptomics, proteomics, metabolomics and force contraction. This will led hopefully to better understand the pathology mechanisms and to identify new therapeutic possibilities.