Folding and transport of proteins, such as major histocompatibility complex (MHC) class I, through the endoplasmic reticulum (ER) is tightly regulated in all cells, including muscle tissue, where the specialized ER sarcoplasmic reticulum is also critical to muscle fiber function. Overexpression of MHC class I protein is a common feature of many muscle pathologies including idiopathic myositis a...

BACKGROUND The muscular dystrophies target muscle groups differentially. In mouse models of muscular dystrophy, notably the mdx model of Duchenne Muscular Dystrophy, the diaphragm muscle shows marked fibrosis and at an earlier age than other muscle groups, more reflective of the histopathology seen in human muscular dystrophy. METHODS Using a mouse model of limb girdle muscular dystrophy, the...

Spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), and spinal-bulbar muscular atrophy (SBMA) are devastating diseases characterized by the degeneration of motor neurons. Although the molecular causes underlying these diseases differ, recent findings have highlighted the contribution of intrinsic skeletal muscle defects in motor neuron diseases. The use of cell culture and anima...

Sporadic inclusion-body myositis (s-IBM) is a myopathy that is characterized by progressive weakness and muscle pathology demonstrating inflammation and rimmed vacuoles. In addition, similar to the pathology observed in the brains of patients with Alzheimer's disease, the deposition of beta-amyloid and phosphorylated tau proteins in muscle fibers has been reported. These shared pathologic featu...

The extraocular muscles are one of few skeletal muscles that are structurally and functionally intact in Duchenne muscular dystrophy. Little is known about the mechanisms responsible for differential sparing or targeting of muscle groups in neuromuscular disease. One hypothesis is that constitutive or adaptive properties of the unique extraocular muscle phenotype may underlie their protection i...

Proximal spinal muscular atrophy (SMA) is a common autosomal recessive childhood form of motor neuron disease. Previous studies have highlighted nerve- and muscle-specific events in SMA, including atrophy of muscle fibres and post-synaptic motor endplates, loss of lower motor neuron cell bodies and denervation of neuromuscular junctions caused by loss of pre-synaptic inputs. Here we have undert...

Background: Trail running is characterised by large elevation gains/losses and varying uneven surfaces. Limited literature available to help guide injury prevention strategies among trail runners. The purpose of this study was determine the epidemiology, clinical characteristics, related risk factors for running-related injuries (RRIs) amid runners who entered 2021 Mac Ultra races. Methods: Des...

Routine dissection of a 69-year-old American Caucasian female revealed a unique accessory slip of the deltoid muscle which was conjoined with the proximal portion of teres minor. The variant muscle bundle was united with the distal portion of the deltoid, but deviated superomedially and fused with the origin of teres minor. This discovery possesses clinical relevance with respect to surgical re...

Cancer cachexia is a common deleterious paraneoplastic syndrome that represents an area of unmet clinical need, partly due to its poorly understood aetiology and complex multifactorial nature. We have interrogated multiple genetically defined larval Drosophila models tumourigenesis against key features human cancer cachexia. Our results indicate cachectic tissue wasting dependent on the genetic...

Heterotopic ossification is a benign process of mature laminar bone formation in the soft tissues. A synonymous term used to describe this pathology in muscle is myositis ossificans. The pathogenesis is unclear, but is likely multifactorial. The basic pathology is thought to be ectopic production of osseous tissue as part of a repair process in response to tissue injury. This report describes a...