Myology research highlights
RSS feedTargeted 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]
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]
Assessment of disease activity in muscular dystrophies by non-invasive imaging
Muscular dystrophies are a class of disorders that cause progressive muscle wasting. A major hurdle for discovering treatments for the muscular dystrophies is a lack of reliable assays to monitor disease progression in animal models. We have developed a novel mouse model to assess disease activity noninvasively in mice with muscular dystrophies. These mice express … [Read more]
Autoantibodies for the diagnosis of autoimmune myopathies
Idiopathic myopathies are a group of acquired muscular diseases considered as autoimmune disorders. Characteristic histopathologic features allow the classification into myositis (polymyositis, dermatomyositis, and inclusion body myositis) and immune-mediated necrotising myopathies. But overlapping histological features may be observed between different idiopathic myopathies and even between acquired and genetic muscular diseases. In the group of idiopathic … [Read more]
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics
Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular dystrophy, and Hutchison-Gilford progeria syndrome. Most LMNA mutations affect skeletal and cardiac muscle by mechanisms that remain incompletely understood. Loss of … [Read more]
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid therapy in DMD
Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. In this study, the Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, aged 2-28 years to carry out a comprehensive battery of measures. A novel composite functional “milestone” scale showed clinically meaningful … [Read more]
