Blog Archives
A new gene silencing approach for FSHD
Defects in mRNA 3′ end formation have been described to alter transcription termination, transport of the mRNA from the nucleus to the cytoplasm, stability of the mRNA and translation efficiency. Therefore, inhibition of polyadenylation may lead to gene silencing. Herein, Facioscapulohumeral Dystrophy (FSHD) was used as a model to determine whether or not targeting key … [Read more]
Next-generation sequencing to diagnose muscle disorders
Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite published guidelines, testing for LOPD is often overlooked or delayed in adults, owing to its low frequency compared to other muscle disorders with similar muscle patterns. Next-generation sequencing (NGS) … [Read more]
Institute seminar – 24 February – Giulio Cossu, MD, FMedSci (Manchester, London, UK)
Cell therapy for muscular dystrophy: lessons learned and the road to efficacy Wednesday 24 February 2016 – 12:00-13:00 Giulio Cossu, MD, FMedSci (Constance Thornley Professor of Regenerative Medicine, Institute of Inflammation and Repair, University of Manchester, UK – Honorary Professor of Human Stem Cell Biology, Department of Cell and Developmental Biology, University College London, UK) … [Read more]
Institute seminar – 23 February – Hanns Lochmüller, MD, FAAN (Newcastle, UK)
Data sharing in Rare Disease Research and RD-Connect Tuesday 23 February 2016 – 12:00-13:00 Hanns Lochmüller, MD, FAAN (Chair of Experimental Myology, Deputy Director, Institute of Genetic Medicine, The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, UK) Host : Gillian Butler-Browne Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building … [Read more]
Institute seminar – 22 February – Emmanuelle Massouridès, PhD (Corbeil-Essonnes, France)
Dp412e: a novel human embryonic dystrophin isoform Monday 22 February 2016 – 12:00-13:00 Emmanuelle Massouridès, PhD (Center for the Study of Stem Cells / I-STEM, Corbeil-Essonnes, France) Host : Stéphanie Lorain Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Reviewing the epidemiology of the muscular dystrophies
The auhors have previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databases. Two reviewers independently reviewed a total of 1104 abstracts and 167 full-text articles from 1985 to 2011. Pooling of prevalence estimates … [Read more]
CRISPR-induced deletion (CinDel): a new therapeutic approach to restore the dystrophin gene reading frame?
The CRISPR/Cas9 system is a great revolution in biology. This technology allows the modification of genes in vitro and in vivo in a wide variety of living organisms. In most Duchenne muscular dystrophy (DMD) patients, expression of dystrophin (DYS) protein is disrupted because exon deletions result in a frame shift. This study describes CRISPR-induced deletion … [Read more]
Increasing the therapeutic potential of DMD with autologous stem cells expressing a novel functional dystrophin
Autologous stem cells that have been genetically modified to express dystrophin are a possible means of treating Duchenne Muscular Dystrophy (DMD). To maximize the therapeutic effect, dystrophin construct needs to contain as many functional motifs as possible, within the packaging capacity of the viral vector. Existing dystrophin constructs used for transduction of muscle stem cells … [Read more]
DGAT2 mutations: a novel cause of an autosomal dominant axonal CMT2 neuropathy
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. Here, the authors examined a Korean family in which two individuals had an autosomal dominant axonal CMT with early onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense … [Read more]
Co-administration of P-glycoprotein inhibitors with bortezomib improves therapeutic access to the CNS
The development of therapeutics for neurological disorders is constrained by limited access to the central nervous system (CNS). ATP-binding cassette (ABC) transporters, particularly P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP), are expressed on the luminal surface of capillaries in the CNS and transport drugs out of the endothelium back into the blood against the … [Read more]
