Myology research highlights

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in SMN1. The authors have previously demonstrated that CNS delivery of an AAV vector encoding SMN1 produced significant improvements in survival in a mouse model of SMA. Here, they performed a dose response study in SMA mice to determine the levels of SMN in … [Read more]

A study to track the natural history and functional capabilities of patients with myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), is recruiting approximately 60 patients of any age (including newborns). There are three North American study sites, Boston, Bethesda, Md., Toronto, and a site in Paris.The investigators will follow study participants for three … [Read more]

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with few therapeutic options. Mild obesity is associated with greater survival in patients with the disease, and calorie-dense diets increased survival in a mouse model. The authors aimed to assess the safety and tolerability of two hypercaloric diets in patients with amyotrophic lateral sclerosis receiving enteral … [Read more]

Sporadic inclusion body myositis (sIBM), the most frequent myositis in elderly patients, is characterised by the presence muscle inflammation and degeneration. Here, the authors aimed at characterising immune responses and regulatory T cells, considered key players in the maintenance of peripheral immune tolerance, in sIBM. Serum and muscle tissue levels of 25 cytokines and phenotype … [Read more]

Using stem cells to replace degenerating muscle cells and restore lost skeletal muscle function is an attractive therapeutic strategy for treating neuromuscular diseases. Myogenic progenitors are a valuable cell type for cell-based therapy and also provide a platform for studying normal muscle development and disease mechanisms in vitro. Human pluripotent stem cells represent a valuable … [Read more]

In this study, the authors investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. Molecular genetic, histochemical, immunoblot, and ultrastructural studies were performed, neuromuscular transmission in vitro in a patient with isolated PREPL deficiency was investigated, and the effect of pyridostigmine … [Read more]

This study evaluated the effects of preventive treatment with low-level laser therapy (LLLT) on the progression of dystrophy in mdx mice. Ten animals were randomly divided into 2 experimental groups treated with superpulsed LLLT (904 nm, 15 mW, 700 Hz, 1 J) or placebo-LLLT at one point overlying the tibialis anterior muscle (bilaterally) 5 times … [Read more]

Ca2+ is a major regulatory and signaling molecule in skeletal muscle, therefore the cellular Ca2+ dynamics need to be tightly regulated. Ca2+ stores are refilled through a process called store-operated Ca2+ entry (SOCE). Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth and differentiation, and Ca2+ … [Read more]

Duchenne muscular dystrophy (DMD) is the most common lethal muscle disorder of children. It is caused by mutations of the dystrophin gene. Adeno-associated virus (AAV)-mediated gene replacement therapy has been actively pursued to treat DMD. However, this promising therapeutic modality has been challenged by the small packaging capacity of the AAV vector. The size of … [Read more]

In this study, the authors conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty-eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was … [Read more]