Blog Archives
An interview with V. Mouly – Immortalised human cell lines for research
In addition to its research activities at the Myology Centre for Research, Team 3 has a service activity for the international scientific community, a platform for producing and sharing immortalised human cell lines. Vincent Mouly, is the Director of Team 3 and began work on the immortalisation of human muscle cells in 1994. At the … [Read more]
Correlation between muscle pathological features and outcome in juvenile dermatomyositis
Outcome of juvenile dermatomyositis (JDM) is highly heterogeneous. This study aimed to determine clinical and muscle biopsy features associated with poor outcome and response to treatment. Clinical data and muscle biopsy were obtained from a monocentric cohort of 29 patients with JDM. Clinical subgroups were defined by latent class model analysis of initial and follow-up … [Read more]
Stem cell-mediated exon skipping of the dystrophin gene
Duchenne muscular dystrophy (DMD) is characterized by the loss of a functional dystrophin protein. By using antisense oligonucleotides (AONs), it is possible to modulate pre-mRNA splicing, eliminating mutated exons and restoring dystrophin open reading frame. To overcome the hurdles in using AONs for therapeutic interventions, the authors of this study exerted engineered human DMD stem … [Read more]
Therapeutic effect of statins in DMD
Duchenne muscular dystrophy (DMD) muscle pathogenesis is characterized by chronic inflammation, oxidative stress, and fibrosis. Statins, cholesterol-lowering drugs, inhibit these deleterious processes in ischemic diseases affecting skeletal muscle, and therefore have potential to improve DMD. However, statins have not been considered for DMD, or other muscular dystrophies, principally because skeletal-muscle-related symptoms are rare, but widely … [Read more]
An updated review of surgery for scoliosis in DMD
Scoliosis in patients with Duchenne muscular dystrophy (DMD) is usually progressive and is treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most patients with DMD and scoliosis. In this updated review, the authors aimed to determine the effectiveness and safety … [Read more]
Sodium nitrate alleviates functional muscle ischemia in patients with Becker muscular dystrophy
Becker muscular dystrophy (BMD) is caused by in-frame mutations in the gene encoding dystrophin, a structural cytoskeletal protein that also targets other proteins to the sarcolemma. Among these is neuronal nitric oxide synthase (nNOSμ), which requires specific spectrin-like repeats (SR16/17) in dystrophin’s rod domain and the adaptor protein α-syntrophin for sarcolemmal targeting. When healthy skeletal … [Read more]
Whole-exome sequencing for the genetic diagnosis of LGMD
This study aimed to translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify the genetic cause of their disorder. WES was carried out on 60 families with LGMDs (100 exomes), who … [Read more]
Largest genetic study of idiopathic inflammatory myopathies
The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. Herein, the authors genotyped 2566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised … [Read more]
Phase I/II clinical trial of a recombinant AAV vector expressing acid alpha-glucosidase in Pompe Disease
A recombinant serotype 9 adeno-associated virus (rAAV9) vector carrying a transgene that expresses codon-optimized human acid alpha-glucosidase (hGAA, or GAA) driven by a human desmin (DES) promoter (i.e., rAAV9-DES-hGAA) is being developed as a treatment for both early- and late-onset Pompe disease. In Pompe disease, patients lack sufficient lysosomal alpha-glucosidase leading to glycogen accumulation. In … [Read more]
A novel DMD mouse model carrying the most frequent exon duplication
Exon duplication mutations account for up to 11% of all cases of Duchenne muscular dystrophy (DMD), and a duplication of exon 2 is the most common duplication in patients. For use as a platform for testing of duplication-specific therapies, the authors of the present study developed a mouse model that carries a Dmd exon 2 … [Read more]
