Myology research highlights
RSS feedGenome modification to reverse DM1 phenotypes
Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats in the 3′-untranslated region (3′ UTR) of the DMPK gene. Correcting the mutation in DM1 stem cells would be an important step towards autologous stem cell therapy. The objective of this study is to demonstrate in vitro genome editing to prevent production of toxic … [Read more]
FSHD pathology: role of miRNA
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. The authors have recently shown that some hallmarks of FSHD are already expressed in fetal FSHD biopsies, thus opening a new field of investigation for mechanisms leading to FSHD. As microRNAs (miRNAs) play an important role … [Read more]
Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
This study aimed to estimate the prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype (Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). In 2002, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) … [Read more]
Multiplex CRISPR/Cas9 facilitates correction of DMD mutations
The CRISPR/Cas9 genome-editing platform is a promising technology to correct the genetic basis of hereditary diseases. The versatility, efficiency and multiplexing capabilities of the CRISPR/Cas9 system enable a variety of otherwise challenging gene correction strategies. Here, the authors use the CRISPR/Cas9 system to restore the expression of the dystrophin gene in cells carrying dystrophin mutations … [Read more]
Predicting the cardiac phenotype correlations in DMD and BMD
Duchenne and Becker muscular dystrophies are caused by mutations in dystrophin. Cardiac manifestations vary broadly, making prognosis difficult. Current dystrophin genotype-cardiac phenotype correlations are limited. For skeletal muscle, the reading-frame rule suggests in-frame mutations tend to yield milder phenotypes. The authors performed dystrophin genotype-cardiac phenotype correlations using a protein-effect model and cardiac magnetic resonance imaging. … [Read more]
Effect of voluntary physical activity on skeletal and cardiac muscle
The effects of voluntary activity initiated in adult mdx (C57BL/10ScSc-DMDmdx /J) mice on skeletal and cardiac muscle function have not been studied extensively. Here, the authors studied the effects of 3 months of voluntary wheel running initiated at age 7 months on hindlimb muscle weakness, increased susceptibility to muscle contraction-induced injury, and left ventricular function … [Read more]
Muscle ultrasound quantifies disease progression in DMD
Quantitative muscle ultrasound (QUS) in boys with Duchenne Muscular Dystrophy (DMD) shows increased echointensity as muscle is replaced with fat and fibrosis. Studies of quantitative ultrasound in infants/young boys with DMD over time have not been reported. Calibrated muscle backscatter (cMB), a reproducible measure of ultrasound echointensity,was used to quantify muscle pathology in 5 young … [Read more]
Protective role of osteoprotegerin in muscle
Receptor-activator of NF-κB, its ligand RANKL, and the soluble decoy receptor osteoprotegerin are the key regulators of osteoclast differentiation and bone remodeling. Although there is a strong association between osteoporosis and skeletal muscle atrophy/dysfunction, the functional relevance of a particular biological pathway that synchronously regulates bone and skeletal muscle physiopathology still is elusive. Here, the … [Read more]
A novel cardiac and skeletal protein aggregate myopathy
Protein aggregate myopathies (PAMs) define muscle disorders characterised by protein accumulation in muscle fibres. The authors describe a new PAM in a patient with proximal muscle weakness and hypertrophic cardiomyopathy, whose muscle fibres contained inclusions containing myosin and myosin-associated proteins, and aberrant distribution of microtubules. These lesions appear as intact A- and M-bands lacking thin … [Read more]
Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT
Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) … [Read more]
