Myology research highlights

AFM-Téléthon is pleased to announce the launching of its first international call for proposals for Research Projects on Bioproduction Breakthroughs in Gene Therapy Technologies. This call will open June 4th 2018 to any project aimed at initiating, optimizing or translating disruptive research toward large-scale production of gene therapy viral vectors (notably AAV, lentivirus…), with emphasis … [Read more]

Denis Furling’s team (Pathophysiology & Biotherapy of Myotonic Dystrophy, Myology Centre for Research, Institute of Myology) has just published a review on relevant cellular models to study Myotonic dystrophy type 1. Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cognitive … [Read more]

Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Over the past years, there have been initiatives to facilitate the process of international study set-up, but the fruits of … [Read more]

  Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, the authors chose the stem-loop RNA structure TSL2, which overlaps with the 5′ … [Read more]

A French team has confirmed the link between the activation of interferon 1 (IFN) and the onset of dermatomyositis, and have demonstrated the efficacy of an interferon 1 inhibitor in 4 people with this disease. People with dermatomyositis have abnormal levels of IFN in the blood and muscles. A link between the activation of IFN … [Read more]

Degenerative muscle changes may be associated with changes in muscle mechanical properties. Shear wave elastography (SWE) allows direct quantification of muscle shear modulus (MSM). In this study, led by two teams from the Institute of Myology*, the aim was to evaluate the feasibility and reliability of SWE in the severely disordered muscle as observed in … [Read more]

Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in Mfn2 cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). In this article, researchers showed that MFN2 activity can be determined by Met376 and His380 interactions with Asp725 and Leu727 and controlled by PINK1 kinase-mediated phosphorylation of adjacent MFN2 Ser378 Small-molecule mimics of the peptide-peptide … [Read more]

The medical records of Duchenne muscular dystrophy (DMD) patients on long-term glucocorticoid therapy (GC) treatment were reviewed retrospectively to evaluate the development of cataracts or ocular hypertension in patients. The main outcome measures were prevalence of cataracts and ocular hypertension, age of first detection of cataract, time from initial steroid use to first detection of … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to hypomethylation of D4Z4 repeats on chromosome 4q causing expression of the DUX4 transcription factor. However, DUX4 is difficult to detect in FSHD muscle biopsies and it is debatable how robust changes in DUX4 target gene expression are as an FSHD biomarker. PAX7 is a … [Read more]

  Dysferlinopathies are caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.Thisstudypresents cross-sectional T1-weighted muscle MRI … [Read more]