Throughout this second day, Myology 2016 was the stage of plenary sessions focused on “Fundamental muscle biology and neuromuscular junction.”
This second day started with a lecture by Christophe Marcelle, initially in charge of the Australian Regenerative Medicine Institute at the University Monash in Melbourne, which has carried out the project Muscle formation, growth and repair since 2009. This project allows the understanding of cellular and molecular mechanisms, which regulates differentiation and myogenic repair. He is now carrying out this project among NeuroMyoGène, a new institute based in Lyon and whose goal is to establish a centre of excellence on neuromuscular diseases in the Auvergne-Rhône-Alpes area. During his speech, he especially discussed how the future of the embryo cells can be influenced by various factors. These results emphasise a link between myogenesis and a change in cell adhesion in numerous developmental and disease processes.
The following subjects were also mentioned throughout the day: mitochondrial dysfunctions, the functioning of neuromuscular junctions and the mechanism of some diseases, notably myasthenia (an autoimmune neuromuscular disease) or metabolic diseases.
During the symposium called Metabolic Diseases, the muscle lipidic metabolism disorders were presented by Pascal Laforêt (Assistance Publique – Hôpitaux de Paris) from the Institute of Myology (Paris). These disorders are inborn errors of metabolism, which manifest themselves in adults as a progressive muscular weakness of the limbs or exercise intolerance with rigidity or induced muscular pain, often coming along with regular episodes of rhabdomyolysis (risk of acute renal failure). Even if they are rare, those diseases are now more and more known because of the increasing use of tandem mass spectrometry enabling to detect the accumulation of acylcarnitines in blood. The diagnosis is essential because some of these rare diseases can be treated or improved by a dietary plan or drugs.
In type 2 glycogenesis, Pr. Ven der Ploeg (Netherlands) reviewed 18 years of enzyme replacement therapy for children and adults (over 700 patients treated in the world), generally involving a stabilisation for adults and an improved efficiency for children. The first child treated in 1999 is going to celebrate his 18th birthday, while this disease is fatal for newborns.