Myology research highlights
RSS feedAtaluren clinical data demonstrate an increase in dystrophin expression in DMD patients
Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ribosomal readthrough of premature stop codons, leading to production of full-length, functional proteins. This Phase 2a open-label, sequential … [Read more]
Cap disease and nemaline myopathy caused by a de novo missense mutation in the TPM3 gene
The slow a-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here, the authors describe a patient presenting an early-onset congenital myopathy associated with a combination of well-separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed … [Read more]
Trial of Tadalafil in DMD open to participants
Multinational pharmaceutical company Eli Lilly is conducting a phase 3 trial of the drug tadalafil (Cialis), which may help regulate blood flow to muscles, in approximately 300 boys with Duchenne muscular dystrophy (DMD) who are 7-14 years old, able to walk, have adequate cardiac function and meet other study criteria. The rationale for using tadalafil … [Read more]
New insights into cause of Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN protein to the assembly of pre-mRNA processing U snRNPs, raising the possibility … [Read more]
New finding marks significant step toward use of stem cells in muscle repair
Human pluripotent stem cells (hPSCs) constitute a promising resource for use in cell-based therapies and a valuable in vitro model for studying early human development and disease. Despite significant advancements in the derivation of specific fates from hPSCs, the generation of skeletal muscle remains challenging and is mostly dependent on transgene expression. Here, the authors … [Read more]
Genzyme and NORD establish program to help undiagnosed patients with rare diseases
Genzyme and the National Organization for Rare Disorders (NORD) announced the creation of a fund to pay for standard diagnostic testing for people with rare, undiagnosed medical conditions. The fund will help those who have applied to the NIH Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible … [Read more]
As the end of 2013 approaches, what is the status of EU national rare disease plans?
As 2013 draws to a close, EU countries are busy formulating, adopting, implementing, or renewing their strategies for providing care and services to rare disease patients as urged via the Council Recommendation of 8 June 2009 on an action in the field of rare diseases. On 22 November 2013, the United Kingdom Department of Health … [Read more]
Misdirection of RNA translation implicated in ALS disease
RNA localisation pathways direct numerous mRNAs to distinct subcellular regions and affect many physiological processes. In one such pathway the tumor-suppressor protein adenomatous polyposis coli (APC) targets RNAs to cell protrusions, forming APC-containing ribonucleoprotein complexes (APC-RNPs). Here, the authors show that APC-RNPs associate with the RNA-binding protein Fus/TLS (fused in sarcoma/translocated in liposarcoma). Fus is … [Read more]
Contribution of cancer to morbidity and mortality in DM patients
Recent studies show that patients with myotonic dystrophy (DM) have an increased risk of specific malignancies, but estimates of absolute cancer risk accounting for competing events are lacking. Using the Swedish Patient Registry, the authors identified 1,081 patients with an inpatient and/or outpatient diagnosis of DM between 1987 and 2007. Date and cause of death … [Read more]
Differences in carrier frequency between mothers of DMD/BMD patients
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of mothers of DMD and BMD patients according to the mutation type. … [Read more]
