Our science & medical news
RSS feedAnti-fibrotic drug therapies in skeletal muscle diseases
Fibrosis is defined as an excessive accumulation of extracellular matrix. It can affect many organs, including the lungs, liver, heart, skin, kidneys and muscles. Muscle fibrosis is the result of a defective regeneration process, unresolved inflammation or chronic damage. Many muscle diseases have a combination of high levels of fibrosis and muscle wasting and weakness. … [Read more]
Cytoskeletal involvement in dilated cardiomyopathy caused by LMNA gene mutations – Interview with Caroline Le Dour
Caroline Le Dour is a post-doctoral fellow in the Signaling Pathways & Striated Muscles team led by Antoine Muchir, at the Institute’s Myology Centre for Research. She is first author of a paper published in Nature Communications which focuses on the interaction of actin and microtubule cytoskeletons in cardiomyopathy caused by LMNA gene mutations. What … [Read more]
Miniaturised “organ-on-chip” for muscle dystrophy modelling
Quantifying functional contraction of skeletal muscle is essential to assess the outcome of therapies in neuromuscular diseases. Three-dimensional muscle “organ-on-chip” models imitate muscle function but usually require a large amount of biological material, which can rarely be obtained from biopsies of patients with neuromuscular diseases. The miniaturised myotube technology used here requires much less tissue … [Read more]
Positive anti-VCP autoantibodies in inclusion myositis
Based on the observation that the VCP protein is mutated in a form of inclusion myopathy ( IBM) and that it is sometimes present in muscle biopsies of IBM or other inflammatory myopathies, American researchers carried out a comparative immunological profile on 456 patients or healthy subjects. Of the 73 patients diagnosed with sporadic IBM, … [Read more]
Dosing for IgG and especially IgG2 anti-TIF1γ in adult dermatomyositis would refine cancer risk assessment
Anti-transcription intermediary factor 1 γ (TIF1γ) autoantibodies are associated, in adults with dermatomyositis, with an excess risk of cancer. A French study involving clinicians from the Institute of Myology had shown in 2019 that anti-TIF1γ of IgG2 subtype could be a biomarker of this tumor risk. A result confirmed by a retrospective international study conducted … [Read more]
Innovative non-amplification targeted long-read sequencing method enables more accurate characterization of CTG repeats in DM1 patients
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder associated with symptom variability. It is caused by an unstable expansion of CTG repeats that increases over generations and in tissues, up to 4000 CTGs. Clinical variability depends on the number of CTG repeats, CNG interruptions and somatic mosaicism. Until now, the limitations of … [Read more]
SAPPHIRE trial starts at I-Motion
The SAPPHIRE trial is an international, randomised, double-blind, placebo-controlled phase III trial that will evaluate the effects of a dual treatment : apitegromab (an anti-myostatin developed by Scholar Rock) injected intravenously every 4 weeks for one year, in addition to treatment with nusinersen or risdiplam, in non-walking patients with SMA type II or III, 156 … [Read more]
Dystrophin restoration after AAV U7-mediated Dmd exon skipping is modulated by muscle exercise in a mouse model of severe DMD
A team of French researchers, involving researchers from the Institute, showed in a mouse model of severe DMD that voluntary exercise has an impact on a Dmd exon skipping approach and on muscle physiology. D2-mdx mice were administered an AAV-U7 snRNA intra-muscularly to correct the Dmd reading frame and then allowed to run in a … [Read more]
Developing allele-specific versatile siRNAs that can silence all dominant mutations in dynamin 2
Dominant mutations in the DNM2 gene encoding Dynamin 2 (DNM2) cause centronuclear dominant myopathy (CNM), rare cases of Charcot-Marie-Tooth disease and hereditary spastic paraplegia. Deleterious overexpression of DNM2 has also been found in several other diseases. In February 2018*, researchers from the Institute of Myology led by Marc Bitoun** had published the proof of concept … [Read more]
A new mutation mechanism in SMA
A few very rare cases of SMA are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation in a 50 year old patient with type III SMA. It took 30 years to solve this complex case. The novel mutation corresponded to the insertion of a retrotransposon of … [Read more]
