We had an exciting congress with excellent industry symposia, an educational teaching course, expert panel discussions, oral presentations from young myologists, and more than 400 e-posters. One of the most exciting sessions was the late-breaking news session, with three outstanding talks on new diagnostic and therapeutic developments.
A new form of congenital myopathy caused by mutations in the TNNC2 gene
Martijn van de Locht from Amsterdam presented the results of an international consortium that identified the underlying genetic cause for a form of autosomal dominant congenital myopathy. They characterised two families that showed mutations in the TNNC2 gene, which encodes fast skeletal troponin C, a protein responsible for binding calcium to activate muscle contraction.
They beautifully showed how the mutations affected the binding of calcium ions and of troponin I, another important player in the regulation of muscle fiber contraction. Finally, after identifying the etiology of the disease and confirming the pathomechanism, they demonstrated that tirasemtiv, a small molecule acting as a fast skeletal muscle troponin activator, could improve muscle contraction in myofibers from patients.