Blog Archives

Myotonic dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that, in particular, provokes functional alteration of CUG-binding proteins. As a consequence, several genes with misregulated alternative splicing have been linked to clinical symptoms. In search for additional molecular mechanisms that would trigger functional defects in DM1, the authors … [Read more]

In prior open-label studies, eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), enabled dystrophin production in Duchenne muscular dystrophy (DMD) with genetic mutations amenable to skipping exon 51. The present study used a double-blind placebo-controlled protocol to test eteplirsen’s ability to induce dystrophin production and improve distance walked on the 6-minute walk test (6MWT). DMD boys aged … [Read more]

In this retrospective study that took place over the last 30 years, the life expectancy in patients suffering from Duchenne muscular dystrophy (DMD) was investigated by analysing the role of ventilatory assistance and causes of death. One hundred and nineteen adult DMD patients were followed from 1981 to 2011 at the AFM Yolaine de Kepper … [Read more]

In this study, the authors aimed to develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). In a discovery cohort, they used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with previous data … [Read more]

Myotonic dystrophy type 1 (DM1) is an inherited dominant muscular dystrophy caused by expanded CTG•CAG triplet repeats in the 3′ UTR of the DMPK1 gene, which produces a toxic gain-of-function CUG RNA. It has been shown that the severity of disease symptoms, age of onset and progression are related to the length of the triplet … [Read more]

Genetic defects in calpain3 (CAPN3) leads to Limb-Girdle Muscular Dystrophy type 2A (LGMD2A), a disease of the skeletal muscle that affects predominantly the proximal limb muscles. The authors of this study have previously demonstrated the potential of Adeno-Associated Virus (AAV)-mediated transfer of the CAPN3 gene to correct the pathological signs in a murine model for … [Read more]

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. Herein, the authors have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous nonsense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the … [Read more]

Facioscapulohumeral muscular dystrophy is a dominantly inherited myopathy associated with chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4. DUX4 is encoded within each unit of the D4Z4 array where it is normally transcriptionally silenced and packaged as constitutive heterochromatin. Truncation of the array to less than 11 D4Z4 units (FSHD1) or mutations in … [Read more]

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, the authors report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and … [Read more]

Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. In this study, a 39 year old dental surgeon suffering from BMD was treated. Muscle strength … [Read more]