Myology research highlights
RSS feedMyoblast transplantation between symptomatic and asymptomatic monozygotic twin sisters: 20 year follow-up
Duchenne muscular dystrophy is due to a mutation on the X-chromosome, therefore it rarely affects women, unless there is an unequal lyonisation of the X-chromosome containing the normal dystrophin gene. This study reports the unique situation of a symptomatic Duchenne muscular dystrophy woman who was transplanted with myoblasts received from her asymptomatic monozygotic twin sister … [Read more]
Targeted genome editing shows promise in DMD
Genome editing with engineered nucleases has recently emerged as an approach to correct genetic mutations by enhancing homologous recombination with a DNA repair template. However, many genetic diseases, such as Duchenne muscular dystrophy (DMD), can be treated simply by correcting a disrupted reading frame. In this study, the authors show that genome editing with transcription … [Read more]
Exome sequencing identifies MARS as a novel cause of late-onset CMT2
Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. In this short report, the authors present data suggesting that MARS is a very rare novel cause of late-onset CMT2. … [Read more]
Moving toward ‘next-generation’ gene therapy
At the 16th annual meeting of the American Society of Gene & Cell Therapy, the Muscular Dystrophy Association (MDA) and the Association Française Contre Les Myopathies (AFM) hosted a joint symposium on advancing gene therapy for neuromuscular diseases. As noted by one of the symposium speakers, Jeffrey Chamberlain, finding effective methods of gene delivery to … [Read more]
Lithium is safe but of no benefit to ALS patients
Lithium has neuroprotective effects in cell and animal models of amyotrophic lateral sclerosis (ALS), and a small pilot study in patients with ALS showed a significant effect of lithium on survival. The lithium carbonate in amyotrophic lateral sclerosis (LiCALS) trial is a randomised, double-blind, placebo-controlled trial of oral lithium taken daily for 18 months in … [Read more]
Identification of Transportin 3 as the causative gene for LGMD1F
Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. In this study, the authors have investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected members are characterised by muscle weakness affecting earlier the pelvic girdle and the ileopsoas muscles. The whole exome of four … [Read more]
Autosomal recessive mutations in desmin cause LGMD2
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and pelvic girdles including at least 17 different genetic entities. Additional loci have yet to be identified as there are families that are unlinked to any of the known loci. The … [Read more]
Mutations in BICD2 cause autosomal dominant SMA
A new gene, bicaudal D homolog 2 (Drosophila) (BICD2) has been identified to cause both dominant congenital spinal muscular atrophy (DCSMA) and hereditary spastic paraplegia (HSP). Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, … [Read more]
SMA VALIANT Trial: Valproic acid in ambulatory adults with SMA
An open label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). Herein, the authors report a 12 month, double blind, crossover study of VPA in 33 ambulatory SMA adults aged 20-55 years. After baseline assessments subjects were randomised to receive VPA (10-20 mg/kg/daily) or placebo. At 6 months, … [Read more]
Do mutations in RYR1 cause rhabdomyolysis and/or exertional myalgia?
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. The RYR1 gene was sequenced in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained … [Read more]
