Myology research highlights

  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]

  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive motor neuron disease affecting children. It is caused by mutations in the IGHMBP2 gene (11q13) and presently has no cure. Recently, adeno-associated virus serotype 9 (AAV9)-mediated gene therapy has been shown to rescue the phenotype of animal models of another lower … [Read more]

  Spinal muscular atrophies (SMAs) are characterised by degeneration of spinal motor neurons and muscle weakness. Autosomal recessive SMA is the most common form and is caused by homozygous deletions/mutations of the SMN1 gene. However, families with dominant inherited SMA have been reported, for most of them the causal gene remains unknown. Recently, studies have … [Read more]

  Conditions such as muscular dystrophies (MDs) that affect both cardiac and skeletal muscles would benefit from therapeutic strategies that enable regeneration of both of these striated muscle types. Protocols have been developed to promote induced pluripotent stem cells (iPSCs) to differentiate toward cardiac or skeletal muscle; however, there are currently no strategies to simultaneously … [Read more]

  Anti-synthetase syndrome (anti-SS) is frequently associated with myositis and interstitial lung disease (ILD). Here, the authors evaluated prospectively, in a multicenter, open-label, phase II study, the efficacy of rituximab on muscle and lung outcomes. The primary endpoint was muscular improvement based on manual muscular testing (MMT10, Kendall score in 10 muscles) at M12. Secondary … [Read more]

  The absence of dystrophin in muscle results in dysregulation of signaling pathways, which could be targets for disease therapy and drug discovery. The authors of the present study have previously identified two exceptional Golden Retriever muscular dystrophy (GRMD) dogs that are mildly affected, have functional muscle, and normal lifespan despite the complete absence of … [Read more]