Myology research highlights

The molecular mechanisms by which aging affects stem cell number and function are poorly understood. Murine data have implicated cellular senescence in the loss of muscle stem cells with aging. Here, using human cells and by carrying out experiments within a strictly pre-senescent division count, the authors demonstrate an impaired capacity for stem cell self-renewal … [Read more]

Charcot-Marie-Tooth disease (CMT) (ORPHA166) is the most frequent hereditary neuropathy. CMT is a heterogeneous group of disorders which, despite some variability in their clinical features, share the same general phenotype, usually characterized by wasting and weakness of distal limb muscles, decreased to absent deep tendon reflexes, distal sensory loss, and frequent skeletal deformities. Despite the … [Read more]

Outcome of juvenile dermatomyositis (JDM) is highly heterogeneous. This study aimed to determine clinical and muscle biopsy features associated with poor outcome and response to treatment. Clinical data and muscle biopsy were obtained from a monocentric cohort of 29 patients with JDM. Clinical subgroups were defined by latent class model analysis of initial and follow-up … [Read more]

Duchenne muscular dystrophy (DMD) is characterized by the loss of a functional dystrophin protein. By using antisense oligonucleotides (AONs), it is possible to modulate pre-mRNA splicing, eliminating mutated exons and restoring dystrophin open reading frame. To overcome the hurdles in using AONs for therapeutic interventions, the authors of this study exerted engineered human DMD stem … [Read more]

Duchenne muscular dystrophy (DMD) muscle pathogenesis is characterized by chronic inflammation, oxidative stress, and fibrosis. Statins, cholesterol-lowering drugs, inhibit these deleterious processes in ischemic diseases affecting skeletal muscle, and therefore have potential to improve DMD. However, statins have not been considered for DMD, or other muscular dystrophies, principally because skeletal-muscle-related symptoms are rare, but widely … [Read more]

Scoliosis in patients with Duchenne muscular dystrophy (DMD) is usually progressive and is treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most patients with DMD and scoliosis. In this updated review, the authors aimed to determine the effectiveness and safety … [Read more]

Becker muscular dystrophy (BMD) is caused by in-frame mutations in the gene encoding dystrophin, a structural cytoskeletal protein that also targets other proteins to the sarcolemma. Among these is neuronal nitric oxide synthase (nNOSμ), which requires specific spectrin-like repeats (SR16/17) in dystrophin’s rod domain and the adaptor protein α-syntrophin for sarcolemmal targeting. When healthy skeletal … [Read more]

This study aimed to translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify the genetic cause of their disorder. WES was carried out on 60 families with LGMDs (100 exomes), who … [Read more]

The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. Herein, the authors genotyped 2566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised … [Read more]

A recombinant serotype 9 adeno-associated virus (rAAV9) vector carrying a transgene that expresses codon-optimized human acid alpha-glucosidase (hGAA, or GAA) driven by a human desmin (DES) promoter (i.e., rAAV9-DES-hGAA) is being developed as a treatment for both early- and late-onset Pompe disease. In Pompe disease, patients lack sufficient lysosomal alpha-glucosidase leading to glycogen accumulation. In … [Read more]