The role of myotubularin, a muscle protein involved in X-linked recessive tubular myopathy, remains poorly understood. Researchers in Strasbourg and Toulouse report on their work on this protein:
- using Mtm1 KIC375S mice, in which endogenous myotubularin lacks enzymatic activity (phosphatase) and exhibits a phenotype combining motor deficit and early death (median survival of 12 weeks),
- high levels of substrate, in this case type 3 phosphatidylinositol phosphate, were observed in the muscle, as were disturbances in the mTOR pathway, autophagy and mitochondria.
The phenotype observed in this transgenic model largely mimics the myopathy observed in humans, paving the way for several therapeutic avenues.
