Ribitol-Phosphate and Muscular Dystrophy

抄録

Dystroglycanopathy (DGpathy) is a group of muscular dystrophies that is caused by abnormalities in the sugar chains on dystroglycan. We contributed to the understanding of structure, mechanism of modification, and function of sugar chains of dystroglycan. In particular, we found modification with ribitol phosphate, a new type of post-translational modification, and showed that FKTN, FKRP, ISPD, and TMEM5 are involved in ribitol phosphate modification. We also clarified the pathological mechanism using DGpathy model mice and proposed treatment strategies. Here, we discuss the recent advancements related to ribitol phosphate modification and the pathological mechanism and therapeutic strategies for DGpathies.