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]

The slow a-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here, the authors describe a patient presenting an early-onset congenital myopathy associated with a combination of well-separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed … [Read more]

Multinational pharmaceutical company Eli Lilly is conducting a phase 3 trial of the drug tadalafil (Cialis), which may help regulate blood flow to muscles, in approximately 300 boys with Duchenne muscular dystrophy (DMD) who are 7-14 years old, able to walk, have adequate cardiac function and meet other study criteria. The rationale for using tadalafil … [Read more]

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN protein to the assembly of pre-mRNA processing U snRNPs, raising the possibility … [Read more]

Human pluripotent stem cells (hPSCs) constitute a promising resource for use in cell-based therapies and a valuable in vitro model for studying early human development and disease. Despite significant advancements in the derivation of specific fates from hPSCs, the generation of skeletal muscle remains challenging and is mostly dependent on transgene expression. Here, the authors … [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]