Myology research highlights
RSS feedCap disease and nemaline myopathy caused by a de novo missense mutation in the TPM3 gene
The slow a-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here, the authors describe a patient presenting an early-onset congenital myopathy associated with a combination of well-separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed … [Read more]
Trial of Tadalafil in DMD open to participants
Multinational pharmaceutical company Eli Lilly is conducting a phase 3 trial of the drug tadalafil (Cialis), which may help regulate blood flow to muscles, in approximately 300 boys with Duchenne muscular dystrophy (DMD) who are 7-14 years old, able to walk, have adequate cardiac function and meet other study criteria. The rationale for using tadalafil … [Read more]
New insights into cause of Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN protein to the assembly of pre-mRNA processing U snRNPs, raising the possibility … [Read more]
Riboflavin therapy can improve the progression of Brown-Vialetto-Van Laere syndrome
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure … [Read more]
Summit and University of Oxford collaborate to develop treatments for DMD
Summit Corporation PLC has entered a strategic alliance with the University of Oxford that will strengthen its utrophin modulator programme for the treatment of the fatal muscle wasting disease, Duchenne Muscular Dystrophy (DMD). Summit will acquire exclusive commercial rights to a pipeline of novel, early-stage utrophin modulators and core biological screening technology, and an exclusive … [Read more]
Abnormal immune response to LRP4 protein can cause MG
Myasthenia gravis (MG) is the most common disorder affecting the neuromuscular junction (NMJ). MG is frequently caused by autoantibodies against acetylcholine receptor (AChR) and a kinase critical for NMJ formation, MuSK; however, a proportion of MG patients are double-negative for anti-AChR and anti-MuSK antibodies. Recent studies in these subjects have identified autoantibodies against low-density lipoprotein … [Read more]
Prosensa & GSK conducting DMD natural history study
Dutch biotechnology company Prosensa and multinational pharmaceutical company GlaxoSmithKline (GSK) are seeking 3-18 year-old participants with Duchenne muscular dystrophy (DMD) for a large-scale study to determine the usual progression of Duchenne muscular dystrophy and aid clinical trials. Prosensa is the developer of drisapersen and other experimental compounds to treat DMD, and GSK has been involved … [Read more]
Unique function of Numb in muscle regeneration
The adaptor protein Numb has been implicated in the switch between cell proliferation and differentiation made by satellite cells during muscle repair. Using two genetic approaches to ablate Numb, the authors determined that, in its absence, muscle regeneration in response to injury was impaired. Single myofiber cultures demonstrated a lack of satellite cell proliferation in … [Read more]
Development of the NM-Score
In this study, the authors aimed to develop a classification for neuromuscular disease patients in each of the three motor function domains (D1: standing and transfers; D2: axial and proximal function; D3: distal function). A draft classification was developed by a study group and then improved by qualitative validation studies (according to the Delphi method) … [Read more]
Clinical and morphological characteristics of recessive myosin myopathy associated with MYH2 mutations
Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, the authors describe for the first time the … [Read more]
