Myology research highlights

Emery-Dreifuss muscular dystrophy is characterised by skeletal muscle loss and weakness, associated with dilated cardiomyopathy and cardiac conduction disorders. Although the genetic cause of this disorder has been known since the 1990s(1,2), the molecular and cellular mechanisms behind loss of strength in these patients remain unclear.  We recently showed that abnormal activation of the ERK1/2 … [Read more]

Hereditary neuromuscular diseases are a common cause of persistent hyperCKemia. Duchenne and Becker muscular dystrophies (DMD, DMB), linked to mutations in the DMD gene, are the most common in boys. They can also affect girls, but the proportion of carriers of DMD gene abnormalities that are symptomatic (skeletal muscle and / or heart) remains unclear.  … [Read more]

Myasthenia gravis is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. Characterized by a varianility of the resulting muscle impairment and by the presence of a synaptic block on the electromyogram, this non-hereditary neuromuscular disease can get significantly worse with certain … [Read more]

A genetic analysis carried out in 250 people with Steinert’s disease (DM1) and who participated in the OPTIMISTIC study showed that 21 of them had variant triplets (CCG or CGG most often) interrupting the repeats of CTG triplets of the DMPK gene, involved in DM1.  This phenomenon is associated with a lower severity of the … [Read more]

Six gene therapy programs are under development in girdle myopathies (LGMD) at Sarepta Therapeutics, in collaboration with the Nationwide Chidren’s Hospital (Columbus, USA). They concern LGMD R1 linked to calpain, LGMD R5 linked to γ-sarcoglycan, LGMD R12 linked to anoctamine, LGMD R2 linked to dysferlin, LGMDR3 linked to α-sarcoglycan and LGMDR4 linked to β-sarcoglycan, the … [Read more]

Inflammatory myopathies (or idiopathic myositis) seem to arise, like other autoimmune diseases, on a predisposing genetic background. To assess the weight of genes, a team from the Karolinska Institutet in Stockholm used three national databases, exhaustive or nearly exhaustive, on the Swedish population, their family ties and their health care. It compared the 7,615 first-degree … [Read more]

Idiopathic inflammatory myopathy is a heterogeneous group of muscle disorders which, in short, consist of four main groups: dermatomyositis, polymyositis (or antisynthetase syndrome), inclusion body myositis (IBM) and immune-mediated necrotising myopathy. Several recent studies highlight the possible link between inflammation and the prevalence of cardiovascular risk, notably in the field of rheumatology. In an article … [Read more]

More than 300 experts from 15 countries, including clinical practitioners, geneticists, patient representatives and researchers, are taking part in the Solve-RD research project, funded by European Union grants over 2018-2022. The Myology Research Centre at the Institute of Myology (team led by Gisèle Bonne) and the ERN-Euro-NMD healthcare network are also contributing to this project. In June … [Read more]

The SMN locus, located in humans in the 5q region, is the site of relative genomic copy number instability of two paralogous genes called SMN1 and SMN2. Deletion, balanced duplication or gene conversion are relatively frequent mutational events in this chromosomal region. While homozygous deletions of the SMN1 gene are well known to give rise … [Read more]

The first French investigation center for the PREMIER trial has just opened: this is the CHU de la Timone in Marseille, which has just recruited the first European participant. Other French centers should also participate in this international phase III trial which started last March in the United States and will take place in Europe, … [Read more]