New type of limb girdle muscular dystrophy identified

Spoke to Prof. Francesco Muntoni and he provided me with some more info about this research. FYI glycosylation is the adding of sugars and DAG1 is the dystroglycan gene:

The findings of mutations of DAG1, in the specific region of DAG1 which interacts with LARGE [one of the proteins already involved in a dystroglycanopathy] further confirms the importance of the appropriate glycosylation of dystroglycan for normal muscle function and health. Several groups worldwide are involved in studies focused on increasing the glycosylation of dystroglycan.

Some of these studies, including one in which we are currently involved at ICH with Dr Torelli and in collaboration with a drug company, uses commercially available cells cultures to screen hundreds of compounds for their effect on dystroglycan glycosylation. Other studies are currently performed in zebrafish mutant for FKRP or other genes involved in the dystroglycan glycosylation pathway; finally at least 2 groups worldwide, one of which being us at ICH , in collaboration with Dr Sue Brown and Prof Nic Wells at RVC, in London, are testing the effect of the forced expression of LARGE in a number of dystroglycanopathy animal models. The first part of this study, funded by the French association AFM, has been recently published [PLoS One. 2010 Dec 28;5(12):e14434.PMID: 21203384] and suggests that this approach is safe and well tolerated in mice, the second question which we are currently addressing is how effective it is in the mice with the relevant muscular dystrophy variants.