Myology research highlights
RSS feedThe SH3 domain interactome of amphiphysin 2 in centronuclear myopathies
While amphiphysin 2 uses its BAR domain to anchor to cell membranes and cause them to bend, it also has an SH3 domain at the other end that enables it to interact with other proteins, in particular dynamin 2, cavin 4 or another amphiphysin 2 molecule. Using a new approach to studying the interactome, the … [Read more]
What about the use of statins in hereditary myopathies?
An Israeli expert in neuromuscular diseases has examined the still controversial issue of statins in routine myological practice. Based on the literature, the author draws the following conclusions: this class of cholesterol-lowering drugs is known for its potential direct or indirect muscle toxicity, in the form of autoimmune necrotising myopathy (ANIM) or, less dramatically, simple … [Read more]
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]
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-TĂ©lĂ©thon, 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]
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]
‘Universalâ 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]
DMD: a gene therapy strategy more effective than microdystrophin in mdx mice
Within a month of each other, a German-American and a Chinese-American team published the proof of concept of a gene therapy strategy leading to the expression of a full-length dystrophin in the skeletal and cardiac muscle of mdx mice. This method is based on intelin-mediated protein trans-splicing. It uses triple administration via a highly muscle-tropic … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Heart transplants and muscular dystrophies: reticence shattered
A review of the literature on the 275 heart transplants performed for muscular dystrophies up to July 2023 shows that : these operations involved 116 patients with Becker’s myopathy (BMD) and 102 with laminopathy, but also 17 patients with limb-girdle muscular dystrophy (LGMD), 12 with Steinert’s myotonic dystrophy (DM1), 11 with Duchenne muscular dystrophy (DMD), … [Read more]
