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  • mutations
  • Over 30 mutations of the muscle channel gene SCN4A, which encodes the muscle voltage-gated sodium channel, have been described and associated with neuromuscular disorders like hypo- and hyper-kalaemic periodic paralyses (hypoPP and hyperPP), paramyotonia congenita, sodium channel myotonias and congenital myasthenic syndrome. (springer.com)
  • Muscular dystrophies arise from inherited mutations in the genes encoding components of these complexes, and gene expression changes disrupting their normal contractile function dysregulate signaling pathways that control muscle growth. (qiagen.com)
  • There is no large difference between these two groups except that patients with no known mutation have attacks precipitated less by cold but more by hunger, are much more likely to have normal muscle biopsies, and show less decreased compound muscle action potentials when compared to patients with known mutations. (wikipedia.org)
  • tissue using
  • An innovative strategy for regenerating skeletal muscle tissue using cells derived from the amniotic fluid is outlined in new research published by scientists at the UCL Institute of Child Health. (ucl.ac.uk)
  • muscular dystrophy
  • Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)-originally named Landouzy-Dejerine-is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). (wikipedia.org)
  • medical citation needed] In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.Initial symptoms of FCMD present in early infancy as decreased ability to feed. (wikipedia.org)
  • Additionally, oxidative stress has some effect on astrocytes (as well as, neurons) when fukutin is subdued In terms of diagnosis of Fukuyama congenital muscular dystrophy, serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD. (wikipedia.org)
  • FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy. (wikipedia.org)
  • neuromuscular
  • Melov said scientists identified about six-thousand sites throughout the genome that were differentially methylated with age and that some of those sites are associated with genes that regulate activity at the neuromuscular junction which connects the nervous system to our muscles. (innovations-report.com)
  • Cisatracurium (formerly recognized as 51W89, and marketed as Nimbex) is a bisbenzyltetrahydroisoquinolinium that has effect as a neuromuscular-blocking drug or skeletal muscle relaxant in the category of non-depolarizing neuromuscular-blocking drugs, used adjunctively in anesthesia to facilitate endotracheal intubation and to provide skeletal muscle relaxation during surgery or mechanical ventilation. (wikipedia.org)
  • cells
  • Chapters address the three major areas of study: provoking regeneration by inducing damage to muscle, analyzing the progenitor cells of skeletal muscle, and quantifying overall muscle function. (springer.com)
  • The paper shows that damaged muscle tissues can be treated with cells derived from the fluids which surround the foetus during development, leading to satisfactory regeneration and muscle activity. (ucl.ac.uk)
  • This is the first time that regeneration of diseased muscle tissue has been obtained using cells derived from amniotic fluid. (ucl.ac.uk)
  • Muscle derived stem cells are presently considered the best source for muscle regeneration. (ucl.ac.uk)
  • De Coppi's team has demonstrated that intravenous transplantation of amniotic fluid stem (AFS) cells enhances the muscle strength and improves the survival rate of the affected animals. (ucl.ac.uk)
  • This is the first study to demonstrate the functional and stable integration of AFS cells into skeletal muscle, highlighting their value as a cell source for the treatment of muscular dystrophies. (ucl.ac.uk)
  • We now need to perform more in-depth studies with human AFS cells in mouse models to see if it is viable to use cells derived from the amniotic fluid to treat diseases affecting skeletal muscle tissue. (ucl.ac.uk)
  • Muscle cells can be extremely short, or long. (time-to-run.com)
  • This review, however, will present evidence that non-infectious stimuli can induce cytokine secretion from leukocytes and other cells (including muscle cells) following myocellular injury. (springer.com)
  • Researchers at MIT and the University of Pennsylvania have genetically engineered skeletal muscle cells to respond to light . (slashdot.org)
  • Alpha-dystroglycan also helps brain development by assisting in the migration of neurons.Most frequently, FKTN is mutated in such a way that creates a shortage of fukutin in the cell, which in turn creates problems during formation of alpha-dystroglycan leading to less stabilization of muscle cells. (wikipedia.org)
  • In smooth-muscle cells, caveolin Cav1 has a role in stretch sensing which triggers cell-cycle progression. (wikipedia.org)
  • fiber
  • The myofibrils are composed of actin and myosin filaments, repeated in units called sarcomeres , which are the basic functional units of the muscle fiber. (wikipedia.org)
  • 3D rendering of a skeletal muscle fiber. (wikipedia.org)
  • Every single organelle and macromolecule of a muscle fiber is arranged to ensure form meets function. (wikipedia.org)
  • While the muscle fiber does not have a smooth endoplasmic cisternae, it contains a sarcoplasmic reticulum . (wikipedia.org)
  • These cross the muscle fiber from one side to the other. (wikipedia.org)
  • The different fiber arrangements produce broad categories of skeletal muscle architectures including longitudinal, pennate , unipennate, bipennate, and multipennate. (wikipedia.org)
  • Each fiber of a muscle can contribute to force production only if it is recruited by the brain. (time-to-run.com)
  • One motor nerve can branch into tens, hundreds, or even a thousand branches, each one terminating on a different muscle fiber. (time-to-run.com)
  • A muscle fiber is divided into functional units known as sarcomeres which are defined as the distance between 2 sets of Z - lines. (mhhe.com)
  • A single muscle fiber is a cyclindrical, elongated cell. (time-to-run.com)
  • Each muscle cell may have from 3 to 6 capillaries directly associated with it, depending on fiber type and training. (time-to-run.com)
  • Longitudinal architecture The fascicles of longitudinally arranged, parallel, or fusiform muscles run parallel to the axis of force generation, thus these muscles on a whole function similarly to a single, large muscle fiber. (wikipedia.org)
  • relaxation
  • The beta-2 adrenergic receptor (β2 adrenoreceptor), also known as ADRB2, is a cell membrane-spanning beta-adrenergic receptor that interacts with (binds) epinephrine, a hormone and neurotransmitter (ligand synonym, adrenaline) whose signaling, via a downstream L-type calcium channel interaction, mediates physiologic responses such as smooth muscle relaxation and bronchodilation. (wikipedia.org)
  • Protein kinase A then goes on to phosphorylate (and thus inactivate) myosin light-chain kinase, which causes smooth muscle relaxation, accounting for the vasodilatory effects of beta 2 stimulation. (wikipedia.org)
  • eccentric
  • Friden J, Sfakianos PN, Hargens AR: Muscle soreness and intracellular fluid pressure: Comparison between eccentric and concentric load. (springer.com)
  • regeneration
  • This Book is a collection of classic and cutting edge protocols optimized for mice, but in most cases adaptable to rat or other mammalian models, that will allow an investigator to develop and implement a research study on skeletal muscle regeneration. (springer.com)
  • The biological actions and potential adaptive values of these cytokines through the course of muscle necrosis and regeneration will be described. (springer.com)
  • Without SSPN, Akt signaling pathways will be hindered and muscle regeneration will not occur. (wikipedia.org)
  • Excitation
  • The result of these alterations in channel kinetics is that there is prolonged inward (depolarizing) current following muscle excitation. (wikipedia.org)
  • hormones
  • and 2) to investigate whether the immediate post-workout increase in body hormones was associated with skeletal muscle mass or strength changes. (unm.edu)
  • In addition, post-exercise levels of circulating hormones did not change as a result of the RT intervention and the researchers summarized they were unrelated to changes in muscle mass and strength. (unm.edu)
  • The blood concentration of these hormones greatly influences fuel utilization by the muscle cell. (time-to-run.com)
  • soreness
  • This disruption hampers the function of the muscle and has been implicated as one of the potential sources of muscle soreness. (mhhe.com)
  • Molecular
  • When a deformation is imposed on a muscle, changes in cellular and molecular conformations link the mechanical forces with biochemical signals, and the close integration of mechanical signals with electrical, metabolic, and hormonal signaling may disguise the aspect of the response that is specific to the mechanical forces. (wikipedia.org)
  • function
  • Children with a less severe form face the prospect of progressive muscle wasting, loss of mobility and motor function. (ucl.ac.uk)
  • interaction
  • Cannon JG, Orencole SF, Fielding RA, Meydani M, Meydani SN, Fiatarone MA, Blumberg JB, Evans WJ: The acute phase response in exercise: Interaction of age and vitamin E on neutrophils and muscle enzyme release. (springer.com)
  • biological
  • Thus, muscle-specific biological and pathophysiological processes are interrelated and cannot be studied in isolation. (qiagen.com)