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https://www.readbyqxmd.com/read/28716227/mitochondrial-trna-genes-are-hotspots-for-mutations-in-a-cohort-of-patients-with-exercise-intolerance-and-mitochondrial-myopathy
#1
Yuanyuan Lu, Danhua Zhao, Sheng Yao, Shiwen Wu, Daojun Hong, Qingqing Wang, Jing Liu, Jan A M Smeitink, Yun Yuan, Zhaoxia Wang
OBJECTIVE: Mitochondrial myopathy (MM) is a relatively rare type of mitochondrial disorder characterized by predominant skeletal muscle involvement. Both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations have been reported as the genetic causes of this disease. Here, we described the clinical and genetic features of a cohort of patients with MM. METHODS: We conducted a retrospective, single center study enrolling 22 patients with clinically and myopathologically diagnosed MM...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28715662/preaged-remodeling-of-myofibrillar-cytoarchitecture-in-skeletal-muscle-expressing-r349p-mutant-desmin
#2
Stefanie Diermeier, Andreas Buttgereit, Sebastian Schürmann, Lilli Winter, Hongyang Xu, Robyn M Murphy, Christoph S Clemen, Rolf Schröder, Oliver Friedrich
The majority of hereditary and acquired myopathies are clinically characterized by progressive muscle weakness. We hypothesized that ongoing derangement of skeletal muscle cytoarchitecture at the single fiber level may precede and be responsible for the progressive muscle weakness. Here, we analyzed the effects of aging in wild-type (wt) and heterozygous (het) and homozygous (hom) R349P desmin knock-in mice. The latter harbor the ortholog of the most frequently encountered human R350P desmin missense mutation...
June 13, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28693603/differential-requirement-for-satellite-cells-during-overload-induced-muscle-hypertrophy-in-growing-versus-mature-mice
#3
Kevin A Murach, Sarah H White, Yuan Wen, Angel Ho, Esther E Dupont-Versteegden, John J McCarthy, Charlotte A Peterson
BACKGROUND: Pax7+ satellite cells are required for skeletal muscle fiber growth during post-natal development in mice. Satellite cell-mediated myonuclear accretion also appears to persist into early adulthood. Given the important role of satellite cells during muscle development, we hypothesized that the necessity of satellite cells for adaptation to an imposed hypertrophic stimulus depends on maturational age. METHODS: Pax7(CreER)-R26R(DTA) mice were treated for 5 days with vehicle (satellite cell-replete, SC+) or tamoxifen (satellite cell-depleted, SC-) at 2 months (young) and 4 months (mature) of age...
July 10, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28680370/effects-of-a-combined-protein-and-antioxidant-supplement-on-recovery-of-muscle-function-and-soreness-following-eccentric-exercise
#4
Stephen J Ives, Samuel Bloom, Alexs Matias, Noelle Morrow, Natalya Martins, Yookee Roh, Daniel Ebenstein, Gabriel O'Brien, Daniela Escudero, Kevin Brito, Leah Glickman, Scott Connelly, Paul J Arciero
BACKGROUND: An acute bout of eccentric contractions (ECC) cause muscle fiber damage, inflammation, impaired muscle function (MF) and muscle soreness (MS). Individually, protein (PRO) and antioxidant (AO) supplementation may improve some aspects of recovery from ECC, though have yet to be combined. We sought to determine if combined PRO and AO supplementation (PRO + AO) improves MS and MF following damaging ECC over PRO alone. METHODS: Sixty sedentary college-aged males participated in a randomized, single-blind, parallel design study of peak isometric torque (PIMT), peak isokinetic torque (PIKT), thigh circumference (TC), and muscle soreness (MS) of knee extensor muscles measured at baseline, immediately after and 1, 2, 6, and 24 h after completion of 100 maximal ECC...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28652350/chimpanzee-super-strength-and-human-skeletal-muscle-evolution
#5
Matthew C O'Neill, Brian R Umberger, Nicholas B Holowka, Susan G Larson, Peter J Reiser
Since at least the 1920s, it has been reported that common chimpanzees (Pan troglodytes) differ from humans in being capable of exceptional feats of "super strength," both in the wild and in captive environments. A mix of anecdotal and more controlled studies provides some support for this view; however, a critical review of available data suggests that chimpanzee mass-specific muscular performance is a more modest 1.5 times greater than humans on average. Hypotheses for the muscular basis of this performance differential have included greater isometric force-generating capabilities, faster maximum shortening velocities, and/or a difference in myosin heavy chain (MHC) isoform content in chimpanzee relative to human skeletal muscle...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28637823/titin-force-enhancement-following-active-stretch-of-skinned-skeletal-muscle-fibres
#6
Krysta Powers, Venus Joumaa, Azim Jinha, Eng Kuan Moo, Ian Curtis Smith, Kiisa Nishikawa, Walter Herzog
In actively stretched skeletal muscle sarcomeres, titin-based force is enhanced, increasing the stiffness of active sarcomeres. Titin force enhancement in sarcomeres is vastly reduced in mdm, a genetic mutation with a deletion in titin. Whether loss of titin force enhancement is associated with compensatory mechanisms at higher structural levels of organization, such as single fibres or entire muscles, is unclear. The aim of this study was to determine whether mechanical deficiencies in titin force enhancement are also observed at the fibre level, and whether mechanisms compensate for the loss of titin force enhancement...
June 21, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28629822/structure-based-designed-nano-dysferlin-significantly-improves-dysferlinopathy-in-bla-j-mice
#7
Telmo Llanga, Nadia Nagy, Laura Conatser, Catherine Dial, R Bryan Sutton, Matthew L Hirsch
Dysferlinopathy is an autosomal recessive muscular dystrophy characterized by the progressive loss of motility that is caused by mutations throughout the DYSF gene. There are currently no approved therapies that ameliorate or reverse dysferlinopathy. Gene delivery using adeno-associated vectors (AAVs) is a leading therapeutic strategy for genetic diseases; however, the large size of dysferlin cDNA (6.2 kB) precludes packaging into a single AAV capsid. Therefore, using 3D structural modeling and hypothesizing dysferlin C2 domain redundancy, a 30% smaller, dysferlin-like molecule amenable to single AAV vector packaging was engineered (termed Nano-Dysferlin)...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28616638/piriformis-muscle-syndrome-with-assessment-of-sciatic-nerve-using-diffusion-tensor-imaging-and-tractography-a-case-report
#8
Keizo Wada, Tomohiro Goto, Tomoya Takasago, Daisuke Hamada, Koichi Sairyo
Piriformis muscle syndrome (PMS) is difficult to diagnose by objective evaluation of sciatic nerve injury. Here we report a case of PMS diagnosed by diffusion tensor imaging (DTI) and tractography of the sciatic nerve, which can assess and visualize the extent of nerve injury. The patient was a 53-year-old man with a 2-year history of continuous pain and numbness in the left leg. His symptoms worsened when sitting. Physical examination, including sensorimotor neurologic tests, the deep tendon reflex test, and the straight leg raise test, revealed no specific findings...
June 14, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28615162/characterization-of-muscle-ankyrin-repeat-proteins-in-human-skeletal-muscle
#9
Stefan G Wette, Heather K Smith, Graham D Lamb, Robyn M Murphy
Muscle Ankyrin Repeat Proteins (MARPs) are a family of titin-associated stress response molecules and putative transducers of stretch-induced signalling in skeletal muscle. In cardiac muscle, Cardiac Ankyrin Repeat Protein (CARP) and Diabetes-Related Ankyrin Repeat Protein (DARP) reportedly redistribute from binding sites on titin to the nucleus following prolonged stretch. However, it is unclear whether Ankyrin repeat-domain protein2 (Ankrd2) shows comparable stretch-induced redistribution to the nucleus. We measured in rested human skeletal muscle 1) the absolute amount of MARPs, and 2) the distribution of Ankrd2 and DARP in both single fibers and whole muscle preparations...
June 14, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/28614723/single-muscle-fiber-proteomics-reveals-fiber-type-specific-features-of-human-muscle-aging
#10
Marta Murgia, Luana Toniolo, Nagarjuna Nagaraj, Stefano Ciciliot, Vincenzo Vindigni, Stefano Schiaffino, Carlo Reggiani, Matthias Mann
Skeletal muscle is a key tissue in human aging, which affects different muscle fiber types unequally. We developed a highly sensitive single muscle fiber proteomics workflow to study human aging and show that the senescence of slow and fast muscle fibers is characterized by diverging metabolic and protein quality control adaptations. Whereas mitochondrial content declines with aging in both fiber types, glycolysis and glycogen metabolism are upregulated in slow but downregulated in fast muscle fibers. Aging mitochondria decrease expression of the redox enzyme monoamine oxidase A...
June 13, 2017: Cell Reports
https://www.readbyqxmd.com/read/28609139/evidence-and-role-of-phlebitis-and-lipid-infiltration-in-the-onset-and-pathogenesis-of-wooden-breast-disease-in-modern-broiler-chickens
#11
Michael Babak Papah, Erin Brannick, Carl J Schmidt, Behnam Abasht
Wooden Breast Disease (WBD), a myopathy that frequently affects modern broiler chickens, is a disorder that has been associated with significant economic losses in the poultry industry. To examine tissue changes associated with the onset and early pathogenesis of this disorder, a time-series experiment was conducted using chickens from a high-breast-muscle-yield, purebred commercial broiler line. Birds were raised for up to seven weeks, with a subset of birds sampled weekly. Breast muscle tissues were extracted at necropsy and processed for analysis by light microscopy and transmission electron microscopy...
June 13, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28592233/single-fiber-electromyography-in-the-orbicularis-oculi-muscle-in-patients-with-ocular-myasthenia-gravis-symptoms-does-abnormal-jitter-predict-response-to-treatment
#12
Goran Rakocevic, Mark Moster, Mary Kay Floeter
BACKGROUND: Seronegative ocular myasthenia gravis (OMG) is diagnosed by ocular symptoms with supporting SFEMG, typically of frontalis or extensor digitorum muscles. We aimed to determine the sensitivity and specificity of orbicularis oculi SFEMG to diagnose and exclude myasthenia gravis and predict response to therapy. METHODS: Orbicularis oculi SFEMG studies were conducted in 142 consecutive patients with symptoms and/or findings of OMG and negative AChR antibody during the period of 5 years...
June 7, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28591954/-the-effect-of-emulsified-sevofluran-on-muscular-relaxation-through-selective-blockage-of-peripheral-nerves
#13
Ling Ye, Xin-Xin Sun, Tao Zhu, Ping-Liang Yang
OBJECTIVES: To identify the site that emulsified sevoflurane influences in the nerve system. METHODS: Thirty-six healthy New Zealand rabbits were randomly and equally divided into low concentration emulsified sevoflurane group [4 mL/(kg·h)], medium concentration [6 mL/(kg·h)]group, high concentration group[10 mL/(kg·h)]and intralipid control group. Emulsified sevoflurane was infused through arterial to selectively block peripheral nerves, neuro-muscular junctions and muscle fibers...
July 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28584973/from-single-muscle-fiber-to-whole-muscle-mechanics-a-finite-element-model-of-a-muscle-bundle-with-fast-and-slow-fibers
#14
Lorenzo Marcucci, Carlo Reggiani, Arturo N Natali, Piero G Pavan
Muscles exhibit highly complex, multi-scale architecture with thousands of muscle fibers, each with different properties, interacting with each other and surrounding connective structures. Consequently, the results of single-fiber experiments are scarcely linked to the macroscopic or whole muscle behavior. This is especially true for human muscles where it would be important to understand of how skeletal muscles disorders affect patients' life. In this work, we developed a mathematical model to study how fast and slow muscle fibers, well characterized in single-fiber experiments, work and generate together force and displacement in muscle bundles...
June 5, 2017: Biomechanics and Modeling in Mechanobiology
https://www.readbyqxmd.com/read/28584817/molecular-cloning-expression-profiling-and-marker-validation-of-the-chicken-myoz3-gene
#15
Maosen Ye, Fei Ye, Liutao He, Yiping Liu, Xiaoling Zhao, Huadong Yin, Diyan Li, Hengyong Xu, Qing Zhu, Yan Wang
Myozenin3 (Myoz3) has been reported to bind multiple Z-disc proteins and hence play a key role in signal transduction and muscle fiber type differentiation. The purpose of current study is to better understand the basic characteristics of Myoz3. Firstly, we cloned the ORF (open reading frame) of the Myoz3 gene. AA (amino acid) sequence analysis revealed that the Myoz3 gene encodes a 26 kDa protein which have 97% identities with that of turkey. Expression profiling showed that Myoz3 mRNA is mainly expressed in leg muscle and breast muscle...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28579877/the-application-of-graphene-oxidized-combining-with-decellularized-scaffold-to-repair-of-sciatic-nerve-injury-in-rats
#16
Qiaoling Wang, Jinlong Chen, Qingfei Niu, Xiumei Fu, Xiaohong Sun, Xiaojie Tong
This paper combined the decellularized scaffold of sciatic nerve of rats with graphene oxidized (GO), studied and facilitated the regeneration of sciatic nerve of rats, and provided the basis for the clinical application of nanomaterials. GO was prepared through improving Hammer's Method. Fourier Infrared Spectrum was used to scan and detect the functional groups in GO of sample by using the pellet method, the microcosmic morphological appearance of GO was observed by using the scanning electron microscope...
May 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28577890/exercise-training-protects-against-aging-induced-mitochondrial-fragmentation-in-mouse-skeletal-muscle-in-a-pgc-1%C3%AE-dependent-manner
#17
Jens Frey Halling, Stine Ringholm, Jesper Olesen, Clara Prats, Henriette Pilegaard
Aging is associated with impaired mitochondrial function, whereas exercise training enhances mitochondrial content and function in part through activation of PGC-1α. Mitochondria form dynamic networks regulated by fission and fusion with profound effects on mitochondrial functions, yet the effects of aging and exercise training on mitochondrial network structure remain unclear. This study examined the effects of aging and exercise training on mitochondrial network structure using confocal microscopy on mitochondria-specific stains in single muscle fibers from PGC-1α KO and WT mice...
May 31, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28577104/level-of-interleukins-il-6-and-il-15-in-blood-plasma-of-mice-after-forced-swimming-test
#18
L V Kapilevich, T A Kironenko, A N Zakharova, A V Kabachkova, S N Orlov
We measured the concentrations of IL-6 and IL-15 in blood plasma of mice at different terms after forced swimming, taking into account exercise intensity and preliminary training. It was shown that training was an important factor affecting blood plasma level of IL both at rest and after single forced swimming: in trained animals, the concentration of both myokines increased immediately after swimming, while in untrained animals, this increase was observed only after 5 h. Changes in cytokine production against the background of training can be associated with various factors, including neuroendocrine mechanisms, stress, modification of intracellular signaling, as well as reorganization of transcriptional mechanisms in muscle fibers...
June 3, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28572500/neuromuscular-electrical-stimulation-improves-skeletal-muscle-regeneration-through-satellite-cell-fusion-with-myofibers-in-healthy-elderly-subjects
#19
Ester Sara Di Filippo, Rosa Mancinelli, Mariangela Marrone, Christian Doria, Vittore Verratti, Luana Toniolo, Josè Luiz Dantas, Stefania Fulle, Tiziana Pietrangelo
The aim was to determine whether neuromuscular electrical stimulation (NMES) affects skeletal muscle regeneration through a reduction of oxidative status in satellite cells of healthy elderly subjects. Satellite cells from the Vastus lateralis skeletal muscle of 12 healthy elderly subjects before and after 8 weeks of NMES were allowed to proliferate to provide myogenic populations of adult stem cells (myogenic precursor cells; MPCs). These MPCs were then investigated in terms of their proliferation, their basal cytoplasmic free Ca(2+) concentrations, and their expression of myogenic regulatory factors (PAX3, PAX7, MYF5, MYOD, MYOG) and microRNAs (miR-1, miR-133a/b, miR-206)...
June 1, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28556093/recovery-of-rat-muscle-size-but-not-function-more-than-1-year-after-a-single-botulinum-toxin-injection
#20
Samuel R Ward, Viviane B Minamoto, Kentaro P Suzuki, Jonah B Hulst, Shannon N Bremner, Richard L Lieber
INTRODUCTION: Neurotoxin injection is used to treat a wide variety of neuromuscular disorders. The purpose of this study was to measure the functional and structural properties of botulinum toxin-injected adult rat skeletal muscle over nearly the entire lifespan. METHODS: Ten groups of animals were subjected to either neurotoxin injection [Botox, Type A (BT-A); Allergan, Irvine, California] or saline solution injection. Neurotoxin-injected animals (n = 90) were analyzed at different time-points: 1 week; 1 month; 3 months; 6 months; 12 months; or 18 months...
May 26, 2017: Muscle & Nerve
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