Polyglucosans myopathies are a rare form of muscle glycogenosis characterized by the accumulation of poorly formed glycogen molecules.
Researchers have developed a transgenic knock-in mouse for the GBE gene (glycogen-disrupting enzyme), responsible for the disease, and have tested several molecules on it for therapeutic purposes.
The chemical compound 144DG11, which is said to interact with the lysosome membrane and induce increased acidification of the latter as well as accelerated degradation of glycogen, has been shown to be able to:
- reduce the amount of polyglucosans accumulated in the brain, liver, heart and peripheral nerve,
- increase the survival and motor performance of the mouse model.
