Our science & medical news
RSS feedThe effectiveness of therapies in DMD depends on the territorial distribution of dystrophin
The distribution of dystrophin in the muscle fibre is not uniform. It is dependent on the cell nuclei, thus creating small functional units at the sarcolemmal level. Researchers from the University of Versailles Saint-Quentin-en-Yvelines, with the contribution of Genethon and the Institute of Myology, have carried out experiments in transgenic mice which have shown a … [Read more]
Standards now available for muscle fibre size and type during growth
The evolution of muscle fibre morphometry during growth is poorly understood. French researchers and engineers involving scientists from the Institute of Myology have used a new image analysis algorithm (Carpaccio.Cloud) to better measure the evolution of several quantitative parameters over time: 482 images, corresponding to 83 biopsied deltoid muscles and representing a total of 33,094 … [Read more]
The induction of self-tolerance is back on the agenda in myasthenia gravis
According to preclinical work by Spanish researchers, carried out with the help of Rozen Le Panse’s team at the Institute of Myology : intraperitoneal injection of acetylcholine receptors (RACh) encapsulated in liposomes rich in phosphatidylserine decreases the anti-RACh antibody level and improves physical performance (Global clinical score or GCS) in an myasthenia gravis experimental mouse … [Read more]
Electrophysiological studies are useful in differentiating CMS
Researchers from the Institute of Myology analysed electroneuromyography data from 120 patients with congenital myasthenic syndromes (CMS) and compared them with the results of genetic studies: five distinct profiles could be established from the measurement of CMAPs and repetitive stimulation of three nerves (accessory nerve, radial nerve, deep fibular nerve) at a frequency of 3 … [Read more]
Myasthenia gravis: the role of thymic macrophages is essential
Myasthenia gravis (MG) is a neuromuscular disease related to the deleterious action of autoantibodies directed against elements of the neuromuscular junction, most often against the acetylcholine receptor (AChR) which is located in the postsynaptic region. The thymus plays a key role in this pathology (AChR-MG) and is characterised by an IFN-β-related type I interferon (IFN) … [Read more]
Anti-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]
