Myology research highlights

  Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than … [Read more]

  In this study, the authors report on five Sardinian patients presenting in their 5th or 6th decade with progressive limb girdle muscle weakness but with muscle biopsies demonstrating vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset … [Read more]

  Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by progressive ossification of soft tissues, for which there is no effective treatment. Mutations in the bone morphogenetic protein (BMP) type I receptor activin receptor-like kinase 2 (ACVR1/ALK2) are the main cause of FOP. Here, the authors generated human induced pluripotent stem cells (hiPSCs) from … [Read more]

  The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, the authors have described … [Read more]

  Genome-wide linkage analysis and whole exome sequencing were used in this study to identify the genetic mutation in a multigenerational Australian family with Charcot-Marie-Tooth type 2 (CMT2) and pyramidal signs. Significant linkage (2 point LOD score ≥ +3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6-Mb interval on chromosome … [Read more]

  The authors of this study aimed to develop a method to recover trophoblastic cells from the cervix through a completely non-invasive approach and obtain a genetic proof of their foetal nature, which would imply that they could be used for non-invasive prenatal diagnosis (NIPD). Obstetrical samples from 21 pregnant women between 8 and 12 … [Read more]

The breakthrough genome editing tool known as CRISPR (clustered regularly interspaced short palindromic repeats) has been used by three separate research groups to treat postnatal Duchenne Muscular Dystrophy (DMD) mice. To correct DMD by skipping mutant dystrophin exons in postnatal muscle tissue in vivo, the investigators used adeno-associated virus-9 (AAV9) to deliver the CRISPR/Cas9 system … [Read more]

  In this study, the authors aimed to identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. They performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but for which mutations in the gene had been excluded. The identification of a … [Read more]

  Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require early diagnosis for effectiveness. Elevated creatine kinase levels in the neonatal period are the initial screening marker in DMD newborn screening programs but is found … [Read more]

  Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus preventing … [Read more]