The 22nd edition of the International Congress of the World Muscle Society was held from October 3rd to 7th, 2017 in Saint-Malo.
For the first time ever, the World Muscle Society International Annual Congress (WMS), the annual reference congress on neuromuscular diseases, was held in France, in Saint Malo, from October 3rd to 7th, 2017. Organised by G. Bonne et T. Voit and supported by the AFM-Telethon and other international partners, this 22nd edition was a success, with more than 540 abstracts submitted and the participation of several hundred researchers, doctors and industries from all over the world.
The excitation/contraction coupling process, i.e. all steps from the stimulation of the muscle cell by nervous influx to its contraction, is better understood: it is based on two major membrane players, the transverse tubules and the sarcoplasmic reticulum, both of which contribute to the release of calcium into the cell so that the muscle contracts.
If too much calcium is released, the muscle contracts. Conversely, too little calcium leads to muscle weakness.
Several neuromuscular diseases (such as central core myopathy, tubular aggregate myopathy, hypokalemic periodic paralysis …) due to defects in the functioning of excitation/contraction coupling and linked to the involvement of different genes were described.
The interest of new generation sequencing techniques in the identification of new genes involved in neuromuscular diseases was the subject of several presentations. Thanks to whole exome sequencing techniques, new genes have been identified, such as CACNA1S in a form of congenital myopathy, CASQ1 in tubular aggregate myopathies.
During the congress, several gene therapy approaches to treat neuromuscular diseases were also presented: the development of micro-dystrophins for gene therapy in Duchenne myopathy, efficacy of gene therapy in a mouse model with OPMD, efficacy of gene therapy introducing the GAA gene in mouse models of Pompe disease and in the monkey, double gene therapy to introduce the large gene encoding the glycogen debranching enzyme in a mouse model of type 3 glycogenosis.
Another session was devoted to extra-muscular manifestations (in the retina, the brain, the heart and the lungs).
More than 500 posters highlighted advances in both basic and preclinical research, as well as studies and clinical trials in neuromuscular diseases. Selected among the 12 papers highlighted during the “poster highlights” session were a French multicentre study “ped-DMscope” which describes the clinical manifestations of 300 children with Steinert’s disease (DM1), a study from a team of the Institute of Myology on the interest of magnetic resonance imaging (MRI) to better characterise muscle damage in neuromuscular diseases, and a study by a team from Genethon that used the CRISPR / Cas9 system to cut and eliminate CTG triplet repeats within the DMPK gene involved in DM1.
