Myology research highlights
RSS feedMutations in BICD2 cause autosomal dominant SMA
A new gene, bicaudal D homolog 2 (Drosophila) (BICD2) has been identified to cause both dominant congenital spinal muscular atrophy (DCSMA) and hereditary spastic paraplegia (HSP). Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, … [Read more]
SMA VALIANT Trial: Valproic acid in ambulatory adults with SMA
An open label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). Herein, the authors report a 12 month, double blind, crossover study of VPA in 33 ambulatory SMA adults aged 20-55 years. After baseline assessments subjects were randomised to receive VPA (10-20 mg/kg/daily) or placebo. At 6 months, … [Read more]
Do mutations in RYR1 cause rhabdomyolysis and/or exertional myalgia?
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. The RYR1 gene was sequenced in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained … [Read more]
Assessment of disease activity in muscular dystrophies by non-invasive imaging
Muscular dystrophies are a class of disorders that cause progressive muscle wasting. A major hurdle for discovering treatments for the muscular dystrophies is a lack of reliable assays to monitor disease progression in animal models. We have developed a novel mouse model to assess disease activity noninvasively in mice with muscular dystrophies. These mice express … [Read more]
Autoantibodies for the diagnosis of autoimmune myopathies
Idiopathic myopathies are a group of acquired muscular diseases considered as autoimmune disorders. Characteristic histopathologic features allow the classification into myositis (polymyositis, dermatomyositis, and inclusion body myositis) and immune-mediated necrotising myopathies. But overlapping histological features may be observed between different idiopathic myopathies and even between acquired and genetic muscular diseases. In the group of idiopathic … [Read more]
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics
Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular dystrophy, and Hutchison-Gilford progeria syndrome. Most LMNA mutations affect skeletal and cardiac muscle by mechanisms that remain incompletely understood. Loss of … [Read more]
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid therapy in DMD
Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. In this study, the Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, aged 2-28 years to carry out a comprehensive battery of measures. A novel composite functional “milestone” scale showed clinically meaningful … [Read more]
Seed capital fund: an incentive to treat rare diseases
The AFM-Telethon and FNA, a fund managed by CDC Entreprises, a unit of the Public investment bank, have launched the first seed capital fund dedicated to innovative biotherapies and rare diseases. With the Caisse des Dépôts Enterprises (a management company in charge of promoting equity capital financing of growing French SMEs in the technological sector … [Read more]
“State-of-the-heart” of cardiac laminopathies
The LMNA gene encodes the nuclear A-type lamins. LMNA mutations are associated with more than 10 clinical entities and represent one of the first causes of inherited dilated cardiomyopathy. LMNA-dilated cardiomyopathy is associated with conduction disease (DCM-CD) and is a severe and aggressive form of DCM. However, pathogenesis remains largely unknown and no specific treatment … [Read more]
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies upon the ability of transcription factor EB (TFEB) to stimulate autophagy and induce lysosomal exocytosis leading to cellular clearance. This approach is particularly attractive in glycogen storage disease type II [a severe metabolic myopathy, Pompe disease (PD)] as the currently available therapy, replacement of … [Read more]
