Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient ...

Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their ...

Fukuyama congenital muscular dystrophy is characterized by generalized muscle weakness and disturbances in central nervous system migration. Although this disorder is caused by mutations in the fukutin gene, which encodes a protein associated with the hypoglycosylation of α-dystroglycan, the specific functions of fukutin protein are largely unknown. In addition to ...

Adult muscle fibers are a source of growth factors, including insulin-like growth factor-1 (IGF-1). These factors influence neuronal survival, axonal growth, and maintenance of synaptic connections. We investigated the components of the IGF system in skeletal muscle samples obtained from 17 sporadic amyotrophic lateral sclerosis patients (sALS) and 29 control ...

Skeletal muscles are able to adapt to over - or under-use. In response to enhanced use, such as exercise, skeletal muscles undergo morphological and physiological changes possibly including injury and regeneration of muscle fibers (myofibers). The regeneration process includes addition or replacement of myofiber nuclei (myonuclei) (1). Myonuclei are terminally ...

ABSTRACT BACKGROUND:The mechanisms by which neuromuscular electrical stimulation training (NMES) may improve limb muscle function and exercise tolerance in COPD are poorly understood. We investigated the functional and muscular effects of NMES in advanced COPD. METHODS:Twenty of 22 patients with COPD were randomly assigned to NMES (n = 12) or ...

Growth hormone is a major stimulator of skeletal muscle growth in animals, including cattle. In this study, we determined whether GH stimulates skeletal muscle growth in cattle by direct stimulation of proliferation or fusion of myoblasts, by direct stimulation of protein synthesis, or by direct inhibition of protein degradation in ...

Ischemia/reperfusion (I/R) injury is a considerable insult to skeletal muscle, often resulting in prolonged functional deficits. The purpose of the current study was to evaluate the controlled release of the pro-regenerative growth factor, insulin-like growth factor-I (IGF-I), from a biodegradable PEGylated fibrin gel matrix and the subsequent recovery of skeletal ...

Myostatin inhibition by follistatin (FS) offers a new approach for muscle mass enhancement. The aim of the present study was to characterize the mediators responsible for the FS hypertrophic action on skeletal muscle in male mice. Because IGF-I and IGF-II, two crucial skeletal muscle growth factors, are induced by myostatin ...

The purposes of the present study were to elucidate the influences of the deficiency of teeth on masticatory muscles, such as the masseter, temporalis and digastric muscles and compare the influence among masticatory muscles. We analysed the expressions of myosin heavy chain (MyHC) isoform messenger RNA (mRNA) and protein in ...

A detailed understanding of how the GH and IGF-I regulate muscle growth, especially in early vertebrates, is still lacking. The fine flounder is a flatfish species exhibiting remarkably slow growth, representing an intriguing model for elucidating growth regulatory mechanisms. Key components of the GH system were examined in groups of ...

Skeletal muscle stem/progenitor cells, which give rise to terminally differentiated muscle, represent potential therapies for skeletal muscle disease. Delineating the factors regulating these precursors will facilitate their reliable application in human muscle repair. During embryonic development and adult regeneration, skeletal muscle progenitors reside in low O(2) environments before local blood ...

Ubiquitination-mediated proteolysis is a hallmark of skeletal muscle wasting manifested in response to negative growth factors, including myostatin. Thus, the characterization of signaling mechanisms that induce the ubiquitination of intracellular and sarcomeric proteins during skeletal muscle wasting is of great importance. We have recently characterized myostatin as a potent negative ...

Based on its potent neurotrophic and myotrophic activities, insulin-like growth factor I (IGF-I) has been proposed for treatment of neuromuscular disorders such as muscular dystrophies and amyotrophic lateral sclerosis (ALS). However, the short half life in the circulation limits its use in vivo. At least in mouse models, beneficial effects ...

PURPOSE: We identified masseter muscle fiber type property differences in subjects with dentofacial deformities. PATIENTS AND METHODS: Samples of masseter muscle were collected from 139 young adults during mandibular osteotomy procedures to assess mean fiber areas and percent tissue occupancies for the 4 fiber types that comprise the muscle. Subjects ...

Background: Animal models of skeletal muscle damage and repair demonstrate that therapeutic ultrasound (TUS) enhances muscle force recovery after damage, increases satellite cell proliferation, and decreases insulin-like growth factor (IGF)-1 splice variant (mechano growth factor) gene expression. However, these effects have not been verified in humans. Purpose: This study was ...

With the human population predicted to reach 9 billion by 2050, increasing food supplies while maintaining adequate standards of animal welfare has become a global priority. In the poultry industry, broilers are genetically selected for greater pectoral but not leg muscularity yield leading to leg disorders and thereby welfare issues. ...

Myosin-binding protein C (MyBP-C) is a thick filament protein playing an essential role in muscle contraction, and MyBP-C mutations cause heart and skeletal muscle disease in millions worldwide. Despite its discovery 40 y ago, the mechanism of MyBP-C function remains unknown. In vitro studies suggest that MyBP-C could regulate contraction ...

OBJECTIVE: The insulin-like growth factor-1 (IGF-1) gene encodes two isoforms, IGF-1Ea and IGF-1Eb. Both isoforms can regulate skeletal muscle growth and strength. It has been suggested that IGF-Eb may be more potent in promoting skeletal muscle hypertrophy. Precise contractile force regulation is particularly important in the oculomotor system. However, expression ...

Insulin-like growth factors (IGFs) are identified in all vertebrates. An insulin/IGF hybrid polypeptide has also been identified in protochordate amphioxus. However, whether this hybrid polypeptide functions as vertebrate IGFs remains unknown. Here we established a primary culture system of mouse muscle satellite cells as an in vitro model to investigate ...

Skeletal muscle atrophy is a common and debilitating condition that lacks a pharmacologic therapy. To develop a potential therapy, we identified 63 mRNAs that were regulated by fasting in both human and mouse muscle, and 29 mRNAs that were regulated by both fasting and spinal cord injury in human muscle. ...

The aim of this study was to investigate whether insulin-like growth factor (IGF)-I gene delivery to myoblast cells promotes the contractile force generated by hydrogel-based tissue-engineered skeletal muscles in vitro. Two retroviral vectors allowing doxycycline (Dox)-inducible expression of the IGF-I gene were transduced into mouse myoblast C2C12 cells to evaluate ...

Myostatin (MSTN) plays a key role in the negative regulation of muscle growth and development during embryogenesis. The MSTN genes have different genetic characteristics in vertebrates: sole gene in mammals, gene duplication in fish, and alternative splicing in birds. To investigate the alternative splicing sites and developmental expression patterns of ...

Proprioception is considered important for maintaining spinal stability and for controlling posture and movement in the low back. Previous studies demonstrate the presence of thixotropic properties in lumbar muscle spindles, wherein a vertebra's positional history alters spindle responsiveness to position and movement. This study investigated whether a vertebra's movement history ...

Although insulin-like growth factor 1 (IGF 1) has been used in immobilizated muscles to prevent muscle atrophy, its effects on muscle atrophy after brain ischemia are not known. This study aimed to determine the effects of IGF 1 on preventing muscle atrophy in rats with brain ischemia. Middle cerebral artery ...

Modern theories of motor control incorporate forward models that combine sensory information and motor commands to predict future sensory states. Such models circumvent unavoidable neural delays associated with on-line feedback control. Here we show that signals in human muscle spindle afferents during unconstrained wrist and finger movements predict future kinematic ...

Focal dystonia (FD) is a devastating neurological condition which causes involuntary muscle contractions and often results in the loss of a musician's playing ability. Our study investigated whether retraining via video conferencing could be helpful in the treatment of a professional pianist with a 5-year history of FD. Although full ...

The muscle spindle has been well studied in mammals, birds, and some reptiles, but little is known about its structure and function in amphibians. Several physiological and behavioral studies in frogs and toads suggest that the submentalis muscle has an important role in jaw-tongue coordination during feeding through sensory feedback ...

During hind limb unloading (HU), the soleus is often in a shortened position and the natural physiological stimulus of muscle spindles is altered, such that muscle spindle activity also changes. Using isolated spindle conditions, the present study investigates the electrophysiological activity and ultrastructure of muscle spindles following HU. Results show ...

ABSTRACT The neuromuscular spindle (NMS) is a proprioceptive myofibrillar component of skeletal muscles that is necessary to maintain normal muscle tone and coordination. Recently, an excess of NMS has been reported as a congenital neuromuscular syndrome with a Noonan phenotype, now linked to Costello syndrome (CS). The vast majority of ...

Muscle spindle fibers are specialized stretch receptors that allow the perception and coordination of limb movement. The differentiation of these specialized structures is initiated by signals derived from the in growing Ia sensory neurons during development. While the direct molecular signaling mechanisms between sensory neurons and developing muscle at nascent ...

Afferent muscle spindle activity in response to passive muscle stretch was recorded in vivo using thin-film longitudinal intrafascicular electrodes. A neural spike detection and classification scheme was developed for the purpose of separating activity of primary and secondary muscle spindle afferents. The algorithm is based on the multiscale continuous wavelet ...

Intrafusal fibers within muscle spindles retain features characteristic of immaturity, unlike the larger and more numerous extrafusal fibers constituting the bulk of skeletal muscle. Satellite cells (SCs), myogenic progenitors, are detected on the surfaces of both intrafusal and extrafusal fibers, but little is known of spindle SCs. We have recently ...

Skeletal muscle structure and function are dependent on intact innervation. Prolonged muscle denervation results in irreversible muscle fiber atrophy, connective tissue hyperplasia, and deterioration of muscle spindles, specialized sensory receptors necessary for proper skeletal muscle function. The protective effect of temporary sensory innervation on denervated muscle, before motor nerve repair, ...

We examined by electron microscopy the innervation of muscle spindles in the internal oblique muscle of the mouse abdominal wall. In the equatorial region, in addition to the sensory innervation on individual intrafusal muscle fibers, sensory cross terminals were often observed between nuclear chain fibers. In the area from the ...

In this study, we explored the feasibility of estimating muscle length in passive conditions by interpreting nerve responses from muscle spindle afferents recorded with thin-film longitudinal intrafascicular electrodes. Afferent muscle spindle response to passive stretch was recorded in ten acute rabbit experiments. A newly proposed first-order model of muscle spindle ...

We observed three novel muscle spindles in the extensor digitorum longus muscle of the aged (20 months) rat. Two muscle spindles of the three contained thin muscle fibers lacking sensory innervation between the layers of the spindle capsule and within the periaxial space, respectively. The other one contained sensory-innervated thin ...

Muscle spindles provide essential information for appropriate motor control. In appendicular muscles, much is known about their position and movement sensitivities, but little is known about the axial muscles of the low back. We investigated the dynamic responsiveness of lumbar paraspinal muscle spindle afferents from L(6) dorsal root filaments during ...

This review of kinaesthesia, the senses of limb position and limb movement, has been prompted by recent new observations on the role of motor commands in position sense. They make it necessary to reassess the present-day views of the underlying neural mechanisms. Peripheral receptors which contribute to kinaesthesia are muscle ...

To analyze and compare the structural and molecular features of classic proprioceptors like muscle spindles and Golgi tendon organs (GTOs) and putative proprioceptors (palisade endings) in sheep extraocular muscle (EOMs). The EOMs of four sheep were analyzed. Frozen sections or wholemount preparations of the samples were immunohistochemically labeled and analyzed ...

It has been debated whether muscle spindles have a role in myofascial pain or not. We present a number of arguments for the former hypothesis. It was hypothesized that firing of intrafusal muscle fibres, i.e. fusimotor activity can be observed as "end plate spikes" (EPSs) in electromyography (EMG). The EPSs ...

The encapsulated sensory endings of mammalian skeletal muscles are all mechanoreceptors. At the most basic functional level they serve as length sensors (muscle spindle primary and secondary endings), tension sensors (tendon organs), and pressure or vibration sensors (lamellated corpuscles). At a higher functional level, the differing roles of individual muscles ...

The mechanisms controlling the formation of synaptic connections between muscle spindle afferents and spinal motor neurons are believed to be regulated by factors originating from muscle spindles. Here, we find that the connections form with appropriate specificity in mice with abnormal spindle development caused by the conditional elimination of the ...

The neural and sensory mechanisms underlying appropriate muscle recruitment in response to balance challenges remains elusive. We asked whether the decerebrate cat preparation might be employed for further investigation of postural mechanisms. First, we evaluated the muscular activation patterns and three-dimensional whole limb forces generated by a modified premammillary decerebrated ...

PURPOSE: To examine the distribution of anti-GQ1b, -GT1a, and -GD1b antibody binding in human extraocular muscles (EOMs), axial and limb muscles, and muscle spindles and thereby test the hypothesis that their distinctive ganglioside composition provides the molecular basis for selective involvement of EOMs and muscle spindles in Miller Fisher syndrome. ...

Muscle spindles contribute to sensorimotor control by supplying feedback regarding muscle length and consequently information about joint position. While substantial study has been devoted to determining the position sensitivity of spindles in limb muscles, there appears to be no data on their sensitivity in the low back. We determined the ...

Muscle spindles are complex sensory organs that have been strongly implicated in the control and perception of movements. Human muscle spindles in relaxed muscles behave as stretch receptors, responding to the length and velocity of their parent muscles. However, it has been unclear how they discharge during active movements since ...

BACKGROUND: Gamma motor neurons (gamma-MNs) selectively innervate muscle spindle intrafusal fibers and regulate their sensitivity to stretch. They constitute a distinct subpopulation that differs in morphology, physiology and connectivity from alpha-MNs, which innervate extrafusal muscle fibers and exert force. The mechanisms that control the differentiation of functionally distinct fusimotor neurons ...

To investigate the spinal neural circuitry that controls the tonus of the external anal sphincter (EAS) in the cat, the size distribution of EAS motor fibers and their motoneurons (MN) was examined, and the presence of muscle spindles in EAS musculature was also tested for. The size distribution of EAS ...

The aim of the present study was to investigate whether the fusimotor control of muscle spindle sensitivity may depend on the movement parameter the task is focused on, either the velocity or the final position reached. The unitary activities of 18 muscle spindle afferents were recorded by microneurography at the ...