Myology research highlights

Myasthenia gravis (MG) is a rare autoimmune disease mediated by pathogenic antibodies (Ab) directed against components of the neuromuscular junction (NMJ), mainly the acetylcholine receptor (AChR). The etiological mechanisms are not totally elucidated, but they include a combination of genetic predisposition, triggering event(s), and hormonal components. MG disease is associated with defective immune regulation, chronic … [Read more]

Becker’s disease is an inherited muscular dystrophy caused by mutations in the gene coding for the dystrophin protein that leads to quantitative and/or qualitative protein dysfunction and consequent muscle degeneration. Studies in animal models demonstrate that, while eccentric or high-intensity training are deleterious for dystrophic muscles, low-intensity aerobic training may slowdown the disease process and … [Read more]

Limb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mutations in the calpain 3 gene (CAPN3). Previous experiments using adeno-associated viral (AAV) vector-mediated calpain 3 gene transfer in mice indicated cardiac toxicity associated with the ectopic expression of the calpain 3 transgene. Here, the researchers, led by Isabelle Richard (Genethon), … [Read more]

On 12 December 2019, Sarepta Therapeutics announced, in a press release, that it had obtained conditional marketing authorisation from the FDA for the antisense oligonucleotide, SRP-4053, now referred to as VYONDYS 53. SRP-4053 targets DMD gene exon 53 skipping, an abnormality that affects approximately
 8% of boys with Duchenne muscular dystrophy (DMD). This is the … [Read more]

Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder. When boys with DMD reach the second decade of life, they lose their ability to walk and become wheelchair dependent. Standing devices and orthoses are considered to be an essential component in the therapy management of DMD. Clinical opinion and research from other neurological … [Read more]

Sarconeos (BIO101), developed by Biophytis, is a drug molecule designed to combat sarcopenia. It promotes muscle regeneration and the maintenance of muscle strength by stimulating muscle protein synthesis and energy production, via the MAP kinase signalling pathways. The FDA has given its approval in the United States for the MYODA plan, in the context of … [Read more]

The pathogenic mechanisms for idiopathic myositis (or inflammatory myopathies) are becoming ever clearer. In particular, they involve interferons (IFNs), whose role has been demonstrated by the transcriptome analysis of tissues or cells taken from patients with myositis, which shows an increase in the expression of IFN stimulated genes (ISGs): there is talk of an “interferon … [Read more]

Myotonic dystrophy type 1 (DM1) is a life-threatening and chronically debilitating neuromuscular disease caused by the expansion of a CTG trinucleotide repeat in the 3′ UTR of the DMPK gene. The mutant RNA forms insoluble structures capable of sequestering RNA binding proteins of the Muscleblind-like (MBNL) family, which ultimately leads to phenotypes. In this work, … [Read more]

The prevalence of arterial hypertension in mitochondrial diseases remains unknown. Between January 2000 and May 2014, a team of French clinicians, including clinicians from the Institut of Myology, retrospectively included patients with genetically proven mitochondrial diseases. We recorded clinical, genetic and cardiac exploration data, including the measure of arterial pressure. Among the 260 patients included … [Read more]

Translarna (ataluren) is the first drug to have obtained a conditional marketing authorization in Europe, in Duchenne muscular dystrophy: On July 31, 2014, the conditional marketing authorization was issued by the EMA only for children with DMD aged 5 years and over, walking and having a nonsense mutation in the DMD gene. On May 31, … [Read more]