Our science & medical news
RSS feedRhoA is a key regulator of myoblast fusion
Satellite cells (SCs) are adult muscle stem cells that are recruited when muscle homeostasis is disturbed. The RhoA GTPase is an important signalling enzyme involved in the rearrangement of the actin cytoskeleton and in the differentiation of myoblast lines. A team from the Institut Cochin in collaboration with researchers from the Institute’s Myology Research Centre … [Read more]
CMT 4J: heterogeneous clinical pictures where electrophysiology is not always sufficient for diagnosis
Mutations in the FIG4 gene are responsible not only for Charcot-Marie-Tooth (CMT) 4J disease, but also for amyotrophic lateral sclerosis and Parkinson disease. In this article, involving clinicians from the Institut de Myologie, published in November 2023, of the eight patients described, six had pure CMT and two had CMT associated with Parkinson disease; three … [Read more]
Gene therapy for gene-based myopathies: review of the literature and prospects
Gene therapy has emerged as a promising avenue in the search for effective treatments for patients with gene-based myopathies. This review of the dedicated scientific literature, carried out by two clinicians from the Institute of Myology, explores the use of viral vectors and in particular recombinant adeno-associated virus (rAAV) vectors as powerful tools for gene … [Read more]
Treatment of thymoma with immune checkpoint inhibitors increases the risk of muscle toxicity
An analysis of various registries and clinical trial data, carried out by an international team involving researchers from the Institute of Myology, revealed: 1,495 cases of myocarditis with immune checkpoint inhibitors in the World Health Organization’s VigiBase registry, a rare (around 1%) but potentially serious adverse event, a 10- to 30-fold greater risk of ICI … [Read more]
Myotubular muscular dystrophy: trial results show efficacy on respiratory and motor function, but challenges remain
Yesterday, The Lancet Neurology published the clinical results of a gene therapy trial conducted by Astellas Gene Therapies, using a drug candidate developed at Genethon, in 24 children suffering from myotubular myopathy, a very severe muscle disease. This international trial, which is taking place in 6 investigating centres around the world, including I-Motion, the Institut … [Read more]
The expertise of the NMR laboratory used to monitor the growth of a patient’s heart
Benjamin Marty is co-leader of the NMR and Spectroscopy Laboratory at the Institute’s Neuromuscular Investigation Center. Together with Yves Fromes, also a researcher in this NMR lab, they just published an article* in The Lancet, in collaboration with Prof Kamenicky, describing the longitudinal muscular (skeletal and cardiac) exploration of a patient with hypopituitary dwarfism treated … [Read more]
Mariko Okubo awarded at the WMS for the discovery of a potential new role for lamins
Mariko Okubo is a post-doctoral researcher in the Myology Centre for Research in the « Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology » team. She is a Japanese Pediatric Neurologist and came to Paris two years ago. She was awarded the Léa Rose Prize at the WMS annual conference held from 3 to 7 … [Read more]
Biology of T cells in neuromuscular diseases: the case of DMD and ALS
In neuromuscular diseases of different pathogenic origins, there is growing evidence of a close interaction between the immune system, the nerve and the muscle. The aim of this review, involving researchers from the Institute of Myology and its partner FIOCRUZ in Brazil, is to analyse this phenomenon more closely in Duchenne muscular dystrophy (DMD) and … [Read more]
Louise Benarroch wins Elsevier Runner Up Award at WMS 2023
Louise Benarroch is a post-doctoral researcher in the “Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology” team led by Gisèle Bonne in the Institute’s CRM. Her latest work on the characterisation of a cellular model for muscle diseases was published* at the end of August, and was also presented at the 28th International Congress of … [Read more]
An overview of the management of mitochondrial diseases in Europe
To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried out among 220 healthcare professionals in 31 European countries. Its findings highlight persistent difficulties: the diagnosis and management of these diseases remain complex and vary from country to country. Comprehensive … [Read more]
