Myology research highlights

Dystrophin, the missing or defective protein in Duchenne muscular dystrophy, is expressed not only in muscle cells but also in vascular endothelial cells (ECs). In this study, the authors assessed the effects of dystrophin deficiency on the angiogenic capacities of ECs. Vascular ECs  were isolated from mdx mice, the murine equivalent of Duchenne muscular dystrophy … [Read more]

Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ribosomal readthrough of premature stop codons, leading to production of full-length, functional proteins. This Phase 2a open-label, sequential … [Read more]

In this article, the authors studied a two-generation family presenting with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis or, if localized to the tibial anterior muscle group, transient compartment-like syndrome (painful acute oedema with neuronal compression and drop foot). 23Na and 1H magnetic resonance imaging displayed myoplasmic sodium … [Read more]

Spinal muscular atrophies (SMAs) are a heterogeneous group of inherited disorders characterized by degeneration of anterior horn cells and progressive muscle weakness. In two unrelated families affected by a distinct form of autosomal-dominant distal SMA initially manifesting with calf weakness, the authors identified by genetic linkage analysis and exome sequencing a heterozygous missense mutation, c.616T>C … [Read more]

Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. Thus far, only three cases with TPM3-related cap myopathy have been described. Here, the authors report on the first autosomal dominant family with cap myopathy in three-generations, caused by a … [Read more]

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure … [Read more]

Summit Corporation PLC has entered a strategic alliance with the University of Oxford that will strengthen its utrophin modulator programme for the treatment of the fatal muscle wasting disease, Duchenne Muscular Dystrophy (DMD). Summit will acquire exclusive commercial rights to a pipeline of novel, early-stage utrophin modulators and core biological screening technology, and an exclusive … [Read more]

Myasthenia gravis (MG) is the most common disorder affecting the neuromuscular junction (NMJ). MG is frequently caused by autoantibodies against acetylcholine receptor (AChR) and a kinase critical for NMJ formation, MuSK; however, a proportion of MG patients are double-negative for anti-AChR and anti-MuSK antibodies. Recent studies in these subjects have identified autoantibodies against low-density lipoprotein … [Read more]

Dutch biotechnology company Prosensa and multinational pharmaceutical company GlaxoSmithKline (GSK) are seeking 3-18 year-old participants with Duchenne muscular dystrophy (DMD) for a large-scale study to determine the usual progression of Duchenne muscular dystrophy and aid clinical trials. Prosensa is the developer of drisapersen and other experimental compounds to treat DMD, and GSK has been involved … [Read more]

The adaptor protein Numb has been implicated in the switch between cell proliferation and differentiation made by satellite cells during muscle repair. Using two genetic approaches to ablate Numb, the authors determined that, in its absence, muscle regeneration in response to injury was impaired. Single myofiber cultures demonstrated a lack of satellite cell proliferation in … [Read more]