Our science & medical news
RSS feedNatural history of X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. The aim of this retrospective study, conducted by French teams including researchers and clinicians from the Institut de Myologie, was to define the clinical, radiological and natural … [Read more]
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply rooted in the multi-omics field of modern biological research, can help us to better understand the molecular pathogenesis of complex diseases. Duchenne muscular dystrophy is an example of a monogenetic … [Read more]
A Marie Sklodowska-Curie European fellowship for Gabriele Ordazzo, postdoc researcher at the Institute
The European Commission has awarded Gabriele Ordazzo, a postdoctoral researcher supervised by Mario Gomes-Pereira (Repeat Expansions & Myotonic Dystrophy team – Gourdon Group), with the prestigious Marie Skłodowska-Curie Actions (MSCA) Individual Fellowship. He follows in the footsteps of Fiorella Grandi supervised by Piera Smeriglio (Biotherapies for motor neuron disorders team), who has been awarded the … [Read more]
Engineering muscle for human transplant – Interview with Bruno Cadot
In August 2023, Bruno Cadot won a call for proposals organised by the German National Innovation Fund (SPRIN-D) to finance his innovative project to create a synthetic muscle, combining chemistry and biology. Now that proof of concept has been achieved in mice, the next step is to make the transition to human transplants. Interview with Bruno … [Read more]
The Institute of Myology gives guidelines for physical activity in neuromuscular diseases
In a contribution to Médicosport-santé© published on the vidal.fr website, researchers and clinicians from the Institute of Myology report on what is known about physical activity in neuromuscular diseases: they have analysed the literature over the last 30 years and give recommendations for training by disease group (muscular dystrophies, idiopathic inflammatory myopathies, metabolic myopathies, mitochondrial … [Read more]
The Institute of Myology, partner in the European Dreams project – Interview with Stéphane Vassilopoulos
Dreams (Drug REpurposing and Artificial intelligence for Muscular disorderS) is an innovative project funded under a European call for tenders for 5 years, with the aim of developing an innovative methodology combining AI, stem cells and pharmacological screening to identify treatments for 5 muscular disorders. It is coordinated by Dr Xavier Nissan, Director of Research … [Read more]
A focus on complex cases of autosomal dominant titinopathies
An international consortium of researchers coordinated by a team of geneticists from Montpellier and including researchers and clinicians from the Institute is reporting the clinical and biological data of patients diagnosed with primary titinopathy on the basis of more sophisticated investigations (including the RNA-seq technique): 17 patients corresponding to eight families were included in the … [Read more]
RhoA 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]
