Myology research highlights

Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most … [Read more]

Clostridium difficile (C diff) colitis infection is the most common cause of nosocomial infectious diarrhea and the prevalence is increasing worldwide. Toxic megacolon is a severe complication of C diff colitis associated with high mortality. Gastrointestinal (GI) comorbidity and impaired smooth muscle contraction are risk factors for the development of C diff-associated toxic megacolon. This … [Read more]

Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded, and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. Here, the authors studied 75 patients with DMD followed at their institution. Cardiac function, as assessed by … [Read more]

Duchenne muscular dystrophy is an inherited degenerative muscle disease with progressive weakness of skeletal and cardiac muscle. Disturbed calcium homeostasis and signalling pathways result in degeneration/regeneration cycles with fibrotic remodelling of muscle tissue, sustained by chronic inflammation. In addition to altered microarchitecture, regeneration in dystrophic muscle fibres is often only classified by centrally located nuclei … [Read more]

Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are inherited muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen (Col) VI. Opening of the cyclosporin A-sensitive mitochondrial permeability transition pore is a causative event in disease pathogenesis, and a potential target for therapy. Here the authors have tested the … [Read more]

Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neuromuscular diseases – there is no effective treatment. Foot and ankle weakness is a major problem for children with CMT, thus interventions that focus on maintaining and increasing strength may provide a solution. In this randomised, controlled trial, the effect and safety of progressive resistance … [Read more]

This study aimed to identify point mutations in a group of 606 patients diagnosed for spinal muscular atrophy (SMA) with excluded biallelic loss of the SMN1 gene. Point missense mutations or small deletions in the SMN1 gene were ultimately identified in 18 patients. Six patients were found to have small deletions, the c.429_435del mutation in … [Read more]

In a May 13, 2014, webcast, Sarepta Therapeutics summarized its plans for eteplirsen and other experimental exon-skipping compounds it has in development to treat Duchenne muscular dystrophy; eteplirsen targets exon 51 of the dystrophin gene and could provide a treatment for 13% of the DMD population. Sarepta will apply to the U.S. Food and Drug … [Read more]

Reversing an earlier negative opinion, the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) gave a qualified endorsement this week to marketing of ataluren (Translarna, PTC Therapeutics) to treat Duchenne muscular dystrophy (DMD). In the drug’s phase IIb and phase III trials, boys with DMD failed to show statistically significant improvements … [Read more]

Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded … [Read more]