Myology research highlights

RSS feed

Comprehensive evaluation of structural and functional myocardial impairments in BMD using quantitative CMR imaging

Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein. Myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. A French-Belgian team involving researchers and clinicians from the Institute of Myology performed a comprehensive evaluation of … [Read more]

AAV CRISPR editing rescues cardiac and muscle function for 18 months in dystrophic mice

Adeno-associated virus-mediated (AAV-mediated) CRISPR editing is a revolutionary approach for treating inherited diseases. Sustained, often life-long mutation correction is required for treating these diseases. Unfortunately, this has never been demonstrated with AAV CRISPR therapy. The authors addressed this question in the mdx model of Duchenne muscular dystrophy (DMD). DMD is caused by dystrophin gene mutation. … [Read more]

1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019)

The purpose of this call is to encourage scientists from different countries to establish effective cooperation within a joint interdisciplinary research project based on complementarity and sharing of expertise, and with an obvious benefit for patients. These are research projects aimed at accelerating the diagnosis and / or exploring the progression of the disease and … [Read more]

A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts

Although considerable research on neuromuscular junctions (NMJs) has been conducted, the prospect of in vivo NMJ studies is limited and these studies are challenging to implement. Therefore, there is a clear unmet need to develop a feasible, robust, and physiologically relevant in vitro NMJ model. The authors, including researchers from Vincent Mouly’s team (Myology Centre … [Read more]

Differential diagnosis of inflammatory and metabolic myopathies

Muscle weakness is a nonspecific finding of myopathy of any aetiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and … [Read more]

Injection site reactions after long-term subcutaneous delivery of drisapersen

This retrospective study reviewed the hospital files of a subset of 7 patients with Duchenne muscular dystrophy (DMD) participating in the open-label phase I/II PRO051-02 study in Leuven: the authors aimed to describe the injection site reactions in these children treated with drisapersen (PRO-051), a 2′-O-methyl phosphorothioate RNA antisense oligonucleotide, that induces exon 51 skipping … [Read more]

Off-label use of Ataluren in non-ambulatory nmDMD patients

About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Following positive results in ambulatory nmDMD (non-sense mutation Duchenne muscular dystrophy) patients, Ataluren (Translarna® by PTC Therapeutics) received conditional approval in ambulant nmDMD patients. However, there are limited data on … [Read more]

Micro-utrophin improves cardiac and skeletal muscle pathology in D2/mdx mice

There is currently no effective treatment except palliative care for Duchenne muscular dystrophy (DMD), although personalized treatments such as exon skipping, stop codon read-through, and viral-based gene therapies are making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy by the age of 10. A systemic therapeutic approach is needed that treats … [Read more]

Is the 2-minute walk test an effective alternative to a 6-minute walk test?

Functional tests such as Motor Function Measure-32 (MFM-32), supine to stand, ascend/descend stairs permit the assessment of task-specific motor function in neuromuscular disease (NMD). The 6-min walk test (6MWT), though functional, is primarily used to assess endurance and disease progression in children with neuromuscular disorders. Barriers to 6MWT administration, in this population, can include reduced … [Read more]

ALS and SMA are linked via the ASC-1 complex

Understanding the molecular pathways disrupted in motor neuron diseases is urgently needed. Here, the authors employed CRISPR knockout (KO) to investigate the functions of four ALS-causative RNA/DNA binding proteins (FUS, EWSR1, TAF15 and MATR3) within the RNAP II/U1 snRNP machinery. They found that each of these structurally related proteins has distinct roles with FUS KO … [Read more]