Myology research highlights

In Duchenne muscular dystrophy (DMD) and the mdx mouse model, the absence of the cytoskeletal protein dystrophin causes defective anchoring of myofibres to the basal lamina. The resultant myofibre degeneration and necrosis lead to a progressive loss of muscle mass, increased fibrosis and ultimately fatal weakness. Connective tissue growth factor (CTGF/CCN-2) is critically involved in … [Read more]

Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is thought to be a disease of sarcomeric thin filaments as six of eight known genes whose mutation can cause NM encode components of that structure, … [Read more]

Orphanet has published List of Research Infrastructures useful to Rare Diseases in Europe. This useful list is arranged by country and provides an exhaustive list of facilities that are extremely vital for rare disease research. Orphanet performs a systematic survey of the literature to provide an estimate of the prevalence of rare diseases in Europe. … [Read more]

Horizon 2020 is the biggest EU Research and Innovation programme ever with nearly €80 billion of funding available over 7 years (2014 to 2020) – in addition to the private investment that this money will attract. It promises more breakthroughs, discoveries and world-firsts by taking great ideas from the lab to the market. By coupling … [Read more]

Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches to the treatment of several neuromuscular disorders including Duchenne muscular dystrophy. The main weakness of this approach arises from the low efficiency and sporadic nature of the delivery of charge-neutral PMO into muscle fibers, the mechanism of which is unknown. In this study, … [Read more]

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 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]

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]

Amyotrophic lateral sclerosis (ALS) is a fatal, late-onset neurodegenerative disease primarily affecting motor neurons. A unifying feature of many proteins associated with ALS, including TDP-43 and ataxin-2, is that they localise to stress granules. Unexpectedly, the authors of the present study found that genes that modulate stress granules are strong modifiers of TDP-43 toxicity in … [Read more]

Dystrophin, the missing or defective protein in Duchenne muscular dystrophy, is expressed not only in muscle cells but also in vascular endothelial cells (ECs). In this study, the authors assessed the effects of dystrophin deficiency on the angiogenic capacities of ECs. Vascular ECs  were isolated from mdx mice, the murine equivalent of Duchenne muscular dystrophy … [Read more]