Myology research highlights
RSS feedHalofuginone directly ameliorates the pathology of the dystrophic muscle
Halofuginone is a leading agent in preventing fibrosis and inflammation in various muscular dystrophies. Here, the authors hypothesized that in addition to these actions, halofuginone directly promotes the cell-cycle events of satellite cells in the mdx and dysf-/- mouse models of early-onset Duchenne muscular dystrophy and late-onset dysferlinopathy, respectively. In both models, addition of halofuginone … [Read more]
Antioxidant vitamins and minerals improves physical performance in FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease characterized by progressive weakness and atrophy of specific skeletal muscles. Despite major progress in the understanding of the genetic basis of FSHD, the exact mechanisms that lead to FSHD defects are not completely understood and no curative treatment is available. However, there is growing evidence that … [Read more]
Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)
The objective of this study was to describe the development and initial psychometric analysis of the UK English version of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT), a patient-reported outcome (PRO) scale designed to measure functional ability in patients with Duchenne muscular dystrophy (DMD). Item selection was made by neuromuscular specialists and a … [Read more]
Exon-skipping to rescue of γ-sarcoglycan deficiency
Exon skipping uses antisense oligonucleotides as a treatment for genetic diseases. The antisense oligonucleotides used for exon skipping are designed to bypass premature stop codons in the target RNA and restore reading frame disruption. Exon skipping is currently being tested in humans with dystrophin gene mutations who have Duchenne muscular dystrophy. For Duchenne muscular dystrophy, … [Read more]
Use of the sensor engineered glove test in Charcot-Marie-Tooth neuropathy
This study aimed to describe a new test to quantitatively evaluate hand function in patients affected by Charcot-Marie-Tooth neuropathy (CMT). The sensor engineered glove test (SEGT) was applied to CMT patients (N: 26) and compared to a cohort of healthy controls (HC, N: 26). CMT patients were further divided into subjects with clinically normal (group … [Read more]
DNA methylation is an age-sensitive upstream regulator of genes controlling cell quiescence
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]
Identification of metabolic and oxidative stress biomarkers in Charcot-Marie-Tooth
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]
Correlation between muscle pathological features and outcome in juvenile dermatomyositis
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]
Stem cell-mediated exon skipping of the dystrophin gene
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]
Therapeutic effect of statins in DMD
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]
