3D skeletal muscle fibre bundle model for investigating muscle disease and treatments
Infantile-onset Pompe disease (IOPD) is a rare but life-threatening disease. It causes skeletal and heart muscle weakness due to a deficiency in an enzyme called acid alpha-glucosidase (GAA). Current treatment with healthy GAA doesn’t provide a complete cure. Researchers now investigate why using the first-ever 3D human skeletal muscle model in a dish. Bundles of human muscle fibres, myobundles (pictured), were grown from muscle cells collected from healthy (left) and IOPD patients (right). IOPD myobundles replicated patient symptoms — reduced GAA enzyme activity, elevated glycogen levels and poor muscle function when under metabolic stress. Treating these myobundles with human GAA, increased GAA activity and reduced glycogen levels as shown by measuring specific protein levels. But this didn’t improve muscle function under stress, as demonstrated by measuring forces generated when myobundles contracted. This model, therefore, presents an effective way to gain new insights into IOPD and potential treatments.
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