Our science & medical news
RSS feedIdentification of CaVβ1 isoforms required in the neuromuscular junction development and maintenance
In skeletal muscle, the voltage-gated calcium channel (VGCC) CaV1.1 enables the coupling between the electrical activity of motor neurons and muscle contraction, following stimulation of acetylcholine receptors at the neuromuscular junction (NMJ). The activity and localisation of CaV1.1 are regulated by the CaVβ subunit. In addition to this function, CaVβ plays a role in modulating … [Read more]
Conditioned mesenchymal cells to alleviate Myasthenia Gravis
Mesenchymal stromal cells (MSCs) are promising tools for the treatment of autoimmune and inflammatory diseases. These multipotent stromal cells possess innate immunomodulatory properties that can be significantly enhanced by co-culture with peripheral blood mononuclear cells (PBMCs). Researchers at the Institute’s Center of Research in Myology and their colleagues studied the mechanisms underlying the conditioning of … [Read more]
Gene therapy and DMD: a possible link with cardiac inflammation?
Following the serious side effects observed during trials of micro–dystrophin gene therapy using an AAV viral vector in Duchenne muscular dystrophy (DMD), researchers at the Institute of Myology undertook to investigate the mechanismsinvolved in greater depth: a transgenic mouse with a double knockout for dystrophin and utrophin was used as an experimental model, treated with … [Read more]
Diseases related to BAG3: a common variant associated with a more severe form
This is the largest study conducted in Europe on the initiative of clinicians at the Institute of Myology, involving 26 patients with mutations in the BAG3 (BCL2-associated athanogene 3) gene, which are very rare. The c.626C>T p.(Pro209Leu) variant, carried by 16 patients, causes motor impairment of the lower limbs or heart failure from childhood onwards. … [Read more]
Antibodies to MuSK CRD are pathogenic in a mouse model of myasthenia gravis
Myasthenia gravis (MG) is caused by autoantibodies directed mainly against the acetylcholine receptor (AChR) or the MuSK receptor tyrosine kinase located at the neuromuscular junction. Several studies have reported immunoreactivity against the Frizzled cysteine-rich domain (CRD) of MuSK in patients, although the pathogenicity of the antibodies involved remains unknown. A collaboration involving several teams from … [Read more]
MoCo MRF T1-FF: a new approach to accurately assess upper body muscle tissues using NMR despite respiratory motion
Over the last decade, MR Fingerprinting (MRF) has emerged as an effective paradigm for the rapid and simultaneous quantification of several parameters using MRI. This method was adapted in 2020 by the NMR Laboratory – Spectroscopy Laboratory at the Institute of Myology to measure parameters that are interesting biomarkers in neuromuscular disorders: water T1 as an … [Read more]
Proteomics as an alternative to muscle biopsy
European researchers, including two from the Institute of Myology, report on progress in serum biomarkers for Duchenne muscular dystrophy (DMD): classical markers, such as creatine phosphokinase, myoglobin and lactate dehydrogenase, are still valid but have serious limitations, biomarkers derived from mass spectrometry studies now provide important and very often reliable information, particularly in cases of … [Read more]
GenoTher Summit 2025: Shaping the Future of Gene Therapy together
GenoTher Summit 2025, the first symposium organised by the GenoTher biocluster, was held on 11 June 2025 at the Génocentre in Évry-Courcouronnes. It brought together more than 350 key players in the gene therapy ecosystem for a day of scientific exchange and strategic reflection. More than 20 international experts from France, the United States, the … [Read more]
Exploring the infinitely small – Interview with Stéphane Vassilopoulos
An expert in cell biology and molecular biology, Stéphane Vassilopoulos is co-director of the ‘Muscle cell organization and therapy of dominant centronuclear myopathy‘ team at the Institute’s Center of Research in Myology. Seeking to understand why and how the alteration of certain muscle proteins leads to dysfunction and then disease, he and his team have … [Read more]
Seeing our muscles in action – Interview with Constantin Slioussarenko
Constantin Slioussarenko, an engineer by training, is a researcher in the NMR and Spectroscopy Laboratory, co-directed by Harmen Reyngoud and Benjamin Marty, at the Neuromuscular Investigation Center. The team works on neuromuscular diseases that affect all the muscles in the body, and whose progression can be fairly heterogeneous, making it difficult to monitor their progress … [Read more]
