Blog Archives
The links between muscular dystrophy and TRAPPC11 are becoming clearer
The TRAPPC11 gene encodes a component of a protein complex involved in intracellular trafficking between the Golgi apparatus and the endoplasmic reticulum. Czech researchers have tried to find out more from samples of new patients with a complex genotype: three patients presenting with early-onset muscular dystrophy had a particular genotype combining distinct missense variants of … [Read more]
M&M’s – Muscle Monday Seminar – 19 September – Fabien Le Grand (France) – Postponed
We are sorry to inform you that the seminar has been postponed to a later date. Integrating in silico predictions with an engineered tissue assay identifies re-quiescence cue for muscle stem cells Monday 16 September 2024 – from 12 to 1 pm Fabien Le Grand, PhD (NeuroMyoGène Institute, Lyon, France) Hosted by Capucine … [Read more]
Advances in myotonic dystrophy type 1 – June 2024
This disease, which is also known as Steinert disease, mainly affects the muscles but can also impact other organs to a greater or lesser extent. DM1 is a “multisystem” disorder, meaning it affects several different organs (muscles, the heart, the respiratory system, the digestive system, the endocrine system and the nervous system). Muscles decrease in … [Read more]
Advances in myotonic dystrophy type 2 – June 2024
DM2 mainly affects the muscles but can also impact other organs to a greater or lesser extent. It is very similar to another more common neuromuscular disease called myotonic dystrophy type 1 (DM1). Muscles decrease in volume, become weak (dystrophy) and have difficulty relaxing after they contract (myotonia). DM2 is a “multisystem” disorder, meaning it … [Read more]
The MYOCAPTURE project improves molecular understanding of congenital myopathies
Between 2009 and 2018, whole exome sequencing of 310 families affected by congenital myopathy as part of the MYOCAPTURE project, supported by the AFM-Téléthon, identified 14 new genes: four linked to other neuromuscular diseases or cardiomyopathy (ASCC1, HSPB8, CACNA1S, MYPN), ten never implicated in a genetic neuromuscular disease (ACTN2, CASQ1, GGPS1, MAP3K20/ZAK, ORAI1, MYO18B, PYROXD1, … [Read more]
World Duchenne Awareness Day on 7 September
World Duchenne Muscular Dystrophy Day provides an opportunity to note the acceleration in the development of innovative therapies for this neuromuscular disease, which is the most common in children. In particular, gene therapy represents a very promising avenue. Généthon, the AFM-Téléthon laboratory, is currently developing a drug candidate which has demonstrated its efficacy in the … [Read more]
New hypotheses on the pathophysiology of inclusion myositis
The pathophysiology of inclusion body myositis (IBM) remains poorly understood. Against this background, American researchers have put forward some new hypotheses: their study looked at muscle biopsies from 38 patients with IBM and 22 healthy individuals matched for age and gender, several complementary approaches were used (transcript study, immunological profile, immunocytochemistry and Western blot, etc.), … [Read more]
Real-life study confirms the place of eculizumab in myasthenia gravis
The retrospective multicentre ELEVATE study in the United States involved 14 myologists and neurologists who prescribed eculizumab to 119 of their patients suffering from Myasthenia Gravis, with anti-RACh in 97% of cases. This drug, prescribed most often for inadequate symptom control (82%) or poor tolerance of treatment (40%), resulted in: a significant reduction in the … [Read more]
Does thymectomy have harmful long-term consequences?
A retrospective study recently published in the New England Journal of Medicine has raised the question of an increased long-term risk, in terms of cancer, autoimmune disease and mortality, after thymectomy as part of cardiothoracic surgery. In Neurology, international specialists in myasthenia (including a researcher from the Institute of Myology) and cardiothoracic surgery review what … [Read more]
‘Universal’ CAR-T cells in autoimmune necrotising myopathy (and scleroderma)
In February 2024, an initial Chinese team published the case of a patient suffering from a refractory form of autoimmune necrotising myopathy, who went into remission following an infusion of CAR-T cells directed against B lymphocyte maturation antigen (BCMA). Six months later, a second publication, this time from a clinical trial, reported another success in … [Read more]
