Myology research highlights

Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. The Myotonic Dystrophy Foundation … [Read more]

Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres which link the contractile apparatus to the sarcolemma and connect the sarcolemma to the basal lamina. Here, a french study conducted by S. Vassilopoulos from M. Bitoun’s team* show that clathrin … [Read more]

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exchange of data and the visibility of the diagnostic offers available for … [Read more]

Spinal muscular atrophy (SMA) is a rare genetic and progressively debilitating neuromuscular disease. It is the leading genetic cause of death among infants. In SMA, low levels of survival of motor neuron (SMN) protein lead to motor neuron death and muscle atrophy as the SMN protein is critical to motor neuron survival. SMA is caused … [Read more]

Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein. Myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. A French-Belgian team involving researchers and clinicians from the Institute of Myology performed a comprehensive evaluation of … [Read more]

Adeno-associated virus-mediated (AAV-mediated) CRISPR editing is a revolutionary approach for treating inherited diseases. Sustained, often life-long mutation correction is required for treating these diseases. Unfortunately, this has never been demonstrated with AAV CRISPR therapy. The authors addressed this question in the mdx model of Duchenne muscular dystrophy (DMD). DMD is caused by dystrophin gene mutation. … [Read more]

The purpose of this call is to encourage scientists from different countries to establish effective cooperation within a joint interdisciplinary research project based on complementarity and sharing of expertise, and with an obvious benefit for patients. These are research projects aimed at accelerating the diagnosis and / or exploring the progression of the disease and … [Read more]

Although considerable research on neuromuscular junctions (NMJs) has been conducted, the prospect of in vivo NMJ studies is limited and these studies are challenging to implement. Therefore, there is a clear unmet need to develop a feasible, robust, and physiologically relevant in vitro NMJ model. The authors, including researchers from Vincent Mouly’s team (Myology Centre … [Read more]

Muscle weakness is a nonspecific finding of myopathy of any aetiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and … [Read more]

This retrospective study reviewed the hospital files of a subset of 7 patients with Duchenne muscular dystrophy (DMD) participating in the open-label phase I/II PRO051-02 study in Leuven: the authors aimed to describe the injection site reactions in these children treated with drisapersen (PRO-051), a 2′-O-methyl phosphorothioate RNA antisense oligonucleotide, that induces exon 51 skipping … [Read more]