-
Motor neurons and endothelial cells additively promote development and fusion of human iPSC-derived skeletal myocytes Skelet. Muscle (IF 4.9) Pub Date : 2024-03-07 Suradip Das, Melanie C. Hilman, Feikun Yang, Foteini Mourkioti, Wenli Yang, D. Kacy Cullen
Neurovascular cells have wide-ranging implications on skeletal muscle biology regulating myogenesis, maturation, and regeneration. Although several in vitro studies have investigated how motor neurons and endothelial cells interact with skeletal myocytes independently, there is limited knowledge about the combined effect of neural and vascular cells on muscle maturation and development. Here, we report
-
Metabolic signatures and potential biomarkers of sarcopenia in suburb-dwelling older Chinese: based on untargeted GC–MS and LC–MS Skelet. Muscle (IF 4.9) Pub Date : 2024-03-07 Peipei Han, Chunhua Yuan, Xiaoyu Chen, Yuanqing Hu, Xiaodan Hu, Zhangtao Xu, Qi Guo
Untargeted metabolomics can be used to expand our understanding of the pathogenesis of sarcopenia. However, the metabolic signatures of sarcopenia patients have not been thoroughly investigated. Herein, we explored metabolites associated with sarcopenia by untargeted gas chromatography (GC)/liquid chromatography (LC)–mass spectrometry (MS) and identified possible diagnostic markers. Forty-eight elderly
-
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle Skelet. Muscle (IF 4.9) Pub Date : 2024-02-22 Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel
Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish disease-related readouts from random variability. The generation of genetically matched isogenic controls using gene editing can reduce variability, but the generation of
-
N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy Skelet. Muscle (IF 4.9) Pub Date : 2024-01-16 Jessica F. Boehler, Kristy J. Brown, Valeria Ricotti, Carl A. Morris
Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in participants with Duchenne muscular dystrophy (DMD) are ongoing. The success of these trials currently relies on standard functional outcome measures that may exhibit variability within and between participants, rendering their use as sole measures of drug efficacy challenging. Given this, supportive objective biomarkers
-
The MuSK-BMP pathway maintains myofiber size in slow muscle through regulation of Akt-mTOR signaling Skelet. Muscle (IF 4.9) Pub Date : 2024-01-03 Diego Jaime, Lauren A. Fish, Laura A. Madigan, Chengjie Xi, Giorgia Piccoli, Madison D. Ewing, Bert Blaauw, Justin R. Fallon
Myofiber size regulation is critical in health, disease, and aging. MuSK (muscle-specific kinase) is a BMP (bone morphogenetic protein) co-receptor that promotes and shapes BMP signaling. MuSK is expressed at all neuromuscular junctions and is also present extrasynaptically in the mouse soleus, whose predominantly oxidative fiber composition is akin to that of human muscle. To investigate the role
-
Restoring skeletal muscle mass as an independent determinant of liver fat deposition improvement in MAFLD Skelet. Muscle (IF 4.9) Pub Date : 2023-12-19 Ting Zhou, Junzhao Ye, Ling Luo, Wei Wang, Shiting Feng, Zhi Dong, Shuyu Zhuo, Bihui Zhong
Cross-sectional studies have demonstrated the association of skeletal muscle mass with metabolic-associated fatty liver disease (MAFLD), while longitudinal data are scarce. We aimed to explore the impact of changes in relative skeletal muscle mass on the MAFLD treatment response. MAFLD patients undergoing magnetic resonance imaging-based proton density fat fraction for liver fat content (LFC) assessments
-
Eldecalcitol prevents muscle loss and osteoporosis in disuse muscle atrophy via NF-κB signaling in mice Skelet. Muscle (IF 4.9) Pub Date : 2023-12-19 Haichao Zhang, Yanping Du, Wenjing Tang, Minmin Chen, Weijia Yu, Zheng Ke, Shuangshuang Dong, Qun Cheng
We investigated the effect of eldecalcitol on disuse muscle atrophy. C57BL/6J male mice aged 6 weeks were randomly assigned to control, tail suspension (TS), and TS-eldecalcitol–treated groups and were injected intraperitoneally twice a week with either vehicle (control and TS) or eldecalcitol at 3.5 or 5 ng for 3 weeks. Grip strength and muscle weights of the gastrocnemius (GAS), tibialis anterior
-
Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene Skelet. Muscle (IF 4.9) Pub Date : 2023-12-16 Thuy-Hang Nguyen, Lise Paprzycki, Alexandre Legrand, Anne-Emilie Declèves, Philipp Heher, Maelle Limpens, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit, Alexandra Tassin
Hypoxia is known to modify skeletal muscle biological functions and muscle regeneration. However, the mechanisms underlying the effects of hypoxia on human myoblast differentiation remain unclear. The hypoxic response pathway is of particular interest in patients with hereditary muscular dystrophies since many present respiratory impairment and muscle regeneration defects. For example, an altered hypoxia
-
Replenishing NAD+ content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy Skelet. Muscle (IF 4.9) Pub Date : 2023-12-04 Déborah Cardoso, Inès Barthélémy, Stéphane Blot, Antoine Muchir
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in DMD gene and loss of the protein dystrophin, which ultimately leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Among the developed therapeutic strategies for DMD
-
Electrical impedance myography detects dystrophin-related muscle changes in mdx mice Skelet. Muscle (IF 4.9) Pub Date : 2023-11-18 Tetsuaki Hiyoshi, Fuqiang Zhao, Rina Baba, Takeshi Hirakawa, Ryosuke Kuboki, Kazunori Suzuki, Yoshiro Tomimatsu, Patricio O’Donnell, Steve Han, Neta Zach, Masato Nakashima
The lack of functional dystrophin protein in Duchenne muscular dystrophy (DMD) causes chronic skeletal muscle inflammation and degeneration. Therefore, the restoration of functional dystrophin levels is a fundamental approach for DMD therapy. Electrical impedance myography (EIM) is an emerging tool that provides noninvasive monitoring of muscle conditions and has been suggested as a treatment response
-
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy Skelet. Muscle (IF 4.9) Pub Date : 2023-11-07 Matthias R. Lambert, Emanuela Gussoni
The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers. Recent advances suggest that TPM3 isoforms hold more extensive functions during skeletal muscle development and in postnatal muscle. Additionally, mutations in the TPM3
-
DNA methylation of insulin signaling pathways is associated with HOMA2-IR in primary myoblasts from older adults Skelet. Muscle (IF 4.9) Pub Date : 2023-10-28 Mark A. Burton, Emma S. Garratt, Matthew O. Hewitt, Hanan Y. Sharkh, Elie Antoun, Leo D. Westbury, Elaine M. Dennison, Nicholas C. Harvey, Cyrus Cooper, Julia L. MacIsaac, Michael S. Kobor, Harnish P. Patel, Keith M. Godfrey, Karen A. Lillycrop
While ageing is associated with increased insulin resistance (IR), the molecular mechanisms underlying increased IR in the muscle, the primary organ for glucose clearance, have yet to be elucidated in older individuals. As epigenetic processes are suggested to contribute to the development of ageing-associated diseases, we investigated whether differential DNA methylation was associated with IR in
-
Biomarkers for Duchenne muscular dystrophy progression: impact of age in the mdx tongue spared muscle Skelet. Muscle (IF 4.9) Pub Date : 2023-09-13 Marcelo dos Santos Voltani Lorena, Estela Kato dos Santos, Renato Ferretti, G. A. Nagana Gowda, Guy L. Odom, Jeffrey S. Chamberlain, Cintia Yuri Matsumura
Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy without an effective treatment, caused by mutations in the DMD gene, leading to the absence of dystrophin. DMD results in muscle weakness, loss of ambulation, and death at an early age. Metabolomics studies in mdx mice, the most used model for DMD, reveal changes in metabolites associated with muscle degeneration and aging. In
-
Sox11 is enriched in myogenic progenitors but dispensable for development and regeneration of the skeletal muscle Skelet. Muscle (IF 4.9) Pub Date : 2023-09-13 Stephanie N. Oprescu, Nick Baumann, Xiyue Chen, Qiang Sun, Yu Zhao, Feng Yue, Huating Wang, Shihuan Kuang
Transcription factors (TFs) play key roles in regulating differentiation and function of stem cells, including muscle satellite cells (MuSCs), a resident stem cell population responsible for postnatal regeneration of the skeletal muscle. Sox11 belongs to the Sry-related HMG-box (SOX) family of TFs that play diverse roles in stem cell behavior and tissue specification. Analysis of single-cell RNA-sequencing
-
MuscleJ2: a rebuilding of MuscleJ with new features for high-content analysis of skeletal muscle immunofluorescence slides Skelet. Muscle (IF 4.9) Pub Date : 2023-08-23 Anne Danckaert, Aurélie Trignol, Guillaume Le Loher, Sébastien Loubens, Bart Staels, Hélène Duez, Spencer L. Shorte, Alicia Mayeuf-Louchart
Histological analysis of skeletal muscle is of major interest for understanding its behavior in different pathophysiological conditions, such as the response to different environments or myopathies. In this context, many software programs have been developed to perform automated high-content analysis. We created MuscleJ, a macro that runs in ImageJ/Fiji on batches of images. MuscleJ is a multianalysis
-
Fusion of myofibre branches is a physiological feature of healthy human skeletal muscle regeneration Skelet. Muscle (IF 4.9) Pub Date : 2023-08-12 Grith Højfeldt, Trent Sorenson, Alana Gonzales, Michael Kjaer, Jesper L. Andersen, Abigail L. Mackey
The occurrence of hyperplasia, through myofibre splitting, remains a widely debated phenomenon. Structural alterations and fibre typing of skeletal muscle fibres, as seen during regeneration and in certain muscle diseases, can be challenging to interpret. Neuromuscular electrical stimulation can induce myofibre necrosis followed by changes in spatial and temporal cellular processes. Thirty days following
-
Development of muscle weakness in a mouse model of critical illness: does fibroblast growth factor 21 play a role? Skelet. Muscle (IF 4.9) Pub Date : 2023-08-04 Wouter Vankrunkelsven, Steven Thiessen, Sarah Derde, Ellen Vervoort, Inge Derese, Isabel Pintelon, Hanne Matheussen, Alexander Jans, Chloë Goossens, Lies Langouche, Greet Van den Berghe, Ilse Vanhorebeek
Critical illness is hallmarked by severe stress and organ damage. Fibroblast growth factor 21 (FGF21) has been shown to rise during critical illness. FGF21 is a pleiotropic hormone that mediates adaptive responses to tissue injury and repair in various chronic pathological conditions. Animal studies have suggested that the critical illness-induced rise in FGF21 may to a certain extent protect against
-
Age-related gene expression signatures from limb skeletal muscles and the diaphragm in mice and rats reveal common and species-specific changes Skelet. Muscle (IF 4.9) Pub Date : 2023-07-12 Tea Shavlakadze, Kun Xiong, Shawn Mishra, Corissa McEwen, Abhilash Gadi, Matthew Wakai, Hunter Salmon, Michael J. Stec, Nicole Negron, Min Ni, Yi Wei, Gurinder S. Atwal, Yu Bai, David J. Glass
As a result of aging, skeletal muscle undergoes atrophy and a decrease in function. This age-related skeletal muscle weakness is known as “sarcopenia”. Sarcopenia is part of the frailty observed in humans. In order to discover treatments for sarcopenia, it is necessary to determine appropriate preclinical models and the genes and signaling pathways that change with age in these models. To understand the
-
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation Skelet. Muscle (IF 4.9) Pub Date : 2023-05-22 Yuqing Guan, Xiongda Liang, Wei Li, Wanying Lin, Guanxia Liang, Hongting Xie, Yu Hou, Yafang Hu, Xuan Shang
Limb-girdle muscular dystrophy R8 (LGMD R8) is a rare autosomal recessive muscle disease caused by TRIM32 gene biallelic defects. The genotype–phenotype correlation of this disease has been reported poorly. Here, we report a Chinese family with two female LGMD R8 patients. We performed whole-genome sequencing (WGS) and Sanger sequencing on the proband. Meanwhile, the function of mutant TRIM32 protein
-
Rapid restitution of contractile dysfunction by synthetic copolymers in dystrophin-deficient single live skeletal muscle fibers Skelet. Muscle (IF 4.9) Pub Date : 2023-05-19 Dongwoo Hahn, Joseph D. Quick, Brian R. Thompson, Adelyn Crabtree, Benjamin J. Hackel, Frank S. Bates, Joseph M. Metzger
Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, a cytoskeletal protein essential for the preservation of the structural integrity of the muscle cell membrane. DMD patients develop severe skeletal muscle weakness, degeneration, and early death. We tested here amphiphilic synthetic membrane stabilizers in mdx skeletal muscle fibers (flexor digitorum brevis; FDB) to determine their
-
Expression of Myomaker and Myomerger in myofibers causes muscle pathology Skelet. Muscle (IF 4.9) Pub Date : 2023-05-01 Phillip C. Witcher, Chengyi Sun, Douglas P. Millay
Skeletal muscle development and regeneration depend on cellular fusion of myogenic progenitors to generate multinucleated myofibers. These progenitors utilize two muscle-specific fusogens, Myomaker and Myomerger, which function by remodeling cell membranes to fuse to each other or to existing myofibers. Myomaker and Myomerger expression is restricted to differentiating progenitor cells as they are
-
New tools for the investigation of muscle fiber-type spatial distributions across histological sections Skelet. Muscle (IF 4.9) Pub Date : 2023-04-22 Anna K. Redmond, Tilman M. Davies, Matthew R. Schofield, Philip W. Sheard
The functional and metabolic properties of skeletal muscles are partly a function of the spatial arrangement of fibers across the muscle belly. Many muscles feature a non-uniform spatial pattern of fiber types, and alterations to the arrangement can reflect age or disease and correlate with changes in muscle mass and strength. Despite the significance of this event, descriptions of spatial fiber-type
-
Extracellular vesicle distribution and localization in skeletal muscle at rest and following disuse atrophy Skelet. Muscle (IF 4.9) Pub Date : 2023-03-10 Ahmed Ismaeel, Douglas W. Van Pelt, Zachary R. Hettinger, Xu Fu, Christopher I. Richards, Timothy A. Butterfield, Jonathan J. Petrocelli, Ivan J. Vechetti, Amy L. Confides, Micah J. Drummond, Esther E. Dupont-Versteegden
Skeletal muscle (SkM) is a large, secretory organ that produces and releases myokines that can have autocrine, paracrine, and endocrine effects. Whether extracellular vesicles (EVs) also play a role in the SkM adaptive response and ability to communicate with other tissues is not well understood. The purpose of this study was to investigate EV biogenesis factors, marker expression, and localization
-
The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins Skelet. Muscle (IF 4.9) Pub Date : 2023-03-07 Clothilde Claus, Moriya Slavin, Eugénie Ansseau, Céline Lancelot, Karimatou Bah, Saskia Lassche, Manon Fiévet, Anna Greco, Sara Tomaiuolo, Alexandra Tassin, Virginie Dudome, Benno Kusters, Anne-Emilie Declèves, Dalila Laoudj-Chenivesse, Baziel G. M. van Engelen, Denis Nonclercq, Alexandra Belayew, Nir Kalisman, Frédérique Coppée
We have previously demonstrated that double homeobox 4 centromeric (DUX4C) encoded for a functional DUX4c protein upregulated in dystrophic skeletal muscles. Based on gain- and loss-of-function studies we have proposed DUX4c involvement in muscle regeneration. Here, we provide further evidence for such a role in skeletal muscles from patients affected with facioscapulohumeral muscular dystrophy (FSHD)
-
An updated C. elegans nuclear body muscle transcriptome for studies in muscle formation and function Skelet. Muscle (IF 4.9) Pub Date : 2023-03-02 Anna L. Schorr, Alejandro Felix Mejia, Martina Y. Miranda, Marco Mangone
The body muscle is an important tissue used in organisms for proper viability and locomotion. Although this tissue is generally well studied and characterized, and many pathways have been elucidated throughout the years, we still lack a comprehensive understanding of its transcriptome and how it controls muscle development and function. Here, we have updated a nuclear FACS sorting-based methodology
-
Angiogenesis precedes myogenesis during regeneration following biopsy injury of skeletal muscle Skelet. Muscle (IF 4.9) Pub Date : 2023-02-14 Nicole L. Jacobsen, Aaron B. Morton, Steven S. Segal
Acute injury to skeletal muscle damages myofibers and fragment capillaries, impairing contractile function and local perfusion. Myofibers and microvessels regenerate from satellite cells and from surviving microvessel fragments, respectively, to restore intact muscle. Established models of injury have used myotoxins and physical trauma to demonstrate the concurrence of myogenesis and angiogenesis during
-
Sarcopenia: investigation of metabolic changes and its associated mechanisms Skelet. Muscle (IF 4.9) Pub Date : 2023-01-19 Jair Marques, Engy Shokry, Olaf Uhl, Lisa Baber, Fabian Hofmeister, Stefanie Jarmusch, Martin Bidlingmaier, Uta Ferrari, Berthold Koletzko, Michael Drey
Sarcopenia is one of the most predominant musculoskeletal diseases of the elderly, defined as age-related progressive and generalized loss of muscle mass with a simultaneous reduction in muscle strength and/or function. Using metabolomics, we aimed to examine the association between sarcopenia and the plasma metabolic profile of sarcopenic patients, measured using a targeted HPLC-MS/MS platform. Plasma
-
Multi-omics analysis of sarcospan overexpression in mdx skeletal muscle reveals compensatory remodeling of cytoskeleton-matrix interactions that promote mechanotransduction pathways Skelet. Muscle (IF 4.9) Pub Date : 2023-01-06 McCourt, Jackie L., Stearns-Reider, Kristen M., Mamsa, Hafsa, Kannan, Pranav, Afsharinia, Mohammad Hossein, Shu, Cynthia, Gibbs, Elizabeth M., Shin, Kara M., Kurmangaliyev, Yerbol Z., Schmitt, Lauren R., Hansen, Kirk C., Crosbie, Rachelle H.
The dystrophin-glycoprotein complex (DGC) is a critical adhesion complex of the muscle cell membrane, providing a mechanical link between the extracellular matrix (ECM) and the cortical cytoskeleton that stabilizes the sarcolemma during repeated muscle contractions. One integral component of the DGC is the transmembrane protein, sarcospan (SSPN). Overexpression of SSPN in the skeletal muscle of mdx
-
The prevalence of low muscle mass associated with obesity in the USA Skelet. Muscle (IF 4.9) Pub Date : 2022-12-21 Murdock, Dana J., Wu, Ning, Grimsby, Joseph S., Calle, Roberto A., Donahue, Stephen, Glass, David J., Sleeman, Mark W., Sanchez, Robert J.
Sarcopenia is defined as age-related low muscle mass and function, and can also describe the loss of muscle mass in certain medical conditions, such as sarcopenic obesity. Sarcopenic obesity describes loss of muscle and function in obese individuals; however, as sarcopenia is an age-related condition and obesity can occur in any age group, a more accurate term is obesity with low lean muscle mass (OLLMM)
-
Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice Skelet. Muscle (IF 4.9) Pub Date : 2022-11-29 White, Zoe, Sun, Zeren, Sauge, Elodie, Cox, Dan, Donen, Graham, Pechkovsky, Dmitri, Straub, Volker, Francis, Gordon A., Bernatchez, Pascal
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that increased plasma cholesterol levels severely exacerbate muscle wasting, and that DMD patients display primary dyslipidemia characterized by elevated
-
Macroglossia and less advanced dystrophic change in the tongue muscle of the Duchenne muscular dystrophy rat Skelet. Muscle (IF 4.9) Pub Date : 2022-10-19 Yamanouchi, Keitaro, Tanaka, Yukie, Ikeda, Masanari, Kato, Shizuka, Okino, Ryosuke, Nishi, Hiroki, Hakuno, Fumihiko, Takahashi, Shin-Ichiro, Chambers, James, Matsuwaki, Takashi, Uchida, Kazuyuki
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease caused by a complete lack of dystrophin, which stabilizes the plasma membrane of myofibers. The orofacial function is affected in an advanced stage of DMD and this often leads to an eating disorder such as dysphagia. Dysphagia is caused by multiple etiologies including decreased mastication and swallowing. Therefore, preventing the functional
-
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review Skelet. Muscle (IF 4.9) Pub Date : 2022-09-29 Magri, Francesca, Antognozzi, Sara, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Velardo, Daniele, Scuvera, Giulietta, Nicotra, Valeria, Giacobbe, Antonella, Milani, Donatella, Fortunato, Francesco, Garbellini, Manuela, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, Ronchi, Dario
Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mitochondrial membranes. Autosomal recessive CHKB mutations cause a rare form of congenital muscular dystrophy known as megaconial congenital muscular dystrophy (MCMD). We describe
-
Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience Skelet. Muscle (IF 4.9) Pub Date : 2022-09-12 Woschitz, Victoria, Mei, Irene, Hedlund, Eva, Murray, Lyndsay M.
Spinal muscular atrophy (SMA) is a form of motor neuron disease affecting primarily children characterised by the loss of lower motor neurons (MNs). Breakdown of the neuromuscular junctions (NMJs) is an early pathological event in SMA. However, not all motor neurons are equally vulnerable, with some populations being lost early in the disease while others remain intact at the disease end-stage. A thorough
-
Identification of the co-differentially expressed hub genes involved in the endogenous protective mechanism against ventilator-induced diaphragm dysfunction Skelet. Muscle (IF 4.9) Pub Date : 2022-09-09 Zhang, Dong, Hao, Wenyan, Niu, Qi, Xu, Dongdong, Duan, Xuejiao
In intensive care units (ICU), mechanical ventilation (MV) is commonly applied to save patients’ lives. However, ventilator-induced diaphragm dysfunction (VIDD) can complicate treatment by hindering weaning in critically ill patients and worsening outcomes. The goal of this study was to identify potential genes involved in the endogenous protective mechanism against VIDD. Twelve adult male rabbits
-
Prolonged FOS activity disrupts a global myogenic transcriptional program by altering 3D chromatin architecture in primary muscle progenitor cells Skelet. Muscle (IF 4.9) Pub Date : 2022-08-15 Barutcu, A. Rasim, Elizalde, Gabriel, Gonzalez, Alfredo E., Soni, Kartik, Rinn, John L., Wagers, Amy J., Almada, Albert E.
The AP-1 transcription factor, FBJ osteosarcoma oncogene (FOS), is induced in adult muscle satellite cells (SCs) within hours following muscle damage and is required for effective stem cell activation and muscle repair. However, why FOS is rapidly downregulated before SCs enter cell cycle as progenitor cells (i.e., transiently expressed) remains unclear. Further, whether boosting FOS levels in the
-
Oxidative stress-induced premature senescence and aggravated denervated skeletal muscular atrophy by regulating progerin–p53 interaction Skelet. Muscle (IF 4.9) Pub Date : 2022-07-29 Xiang, Yaoxian, You, Zongqi, Huang, Xinying, Dai, Junxi, Zhang, Junpeng, Nie, Shuqi, Xu, Lei, Jiang, Junjian, Xu, Jianguang
Progerin elevates atrophic gene expression and helps modify the nuclear membrane to cause severe muscle pathology, which is similar to muscle weakness in the elderly, to alter the development and function of the skeletal muscles. Stress-induced premature senescence (SIPS), a state of cell growth arrest owing to such stimuli as oxidation, can be caused by progerin. However, evidence for whether SIPS-induced
-
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice Skelet. Muscle (IF 4.9) Pub Date : 2022-07-28 Meijboom, Katharina E., Sutton, Emma R., McCallion, Eve, McFall, Emily, Anthony, Daniel, Edwards, Benjamin, Kubinski, Sabrina, Tapken, Ines, Bünermann, Ines, Hazell, Gareth, Ahlskog, Nina, Claus, Peter, Davies, Kay E., Kothary, Rashmi, Wood, Matthew J. A., Bowerman, Melissa
Spinal muscular atrophy (SMA) is a childhood neuromuscular disorder caused by depletion of the survival motor neuron (SMN) protein. SMA is characterized by the selective death of spinal cord motor neurons, leading to progressive muscle wasting. Loss of skeletal muscle in SMA is a combination of denervation-induced muscle atrophy and intrinsic muscle pathologies. Elucidation of the pathways involved
-
Differences in muscle satellite cell dynamics during muscle hypertrophy and regeneration Skelet. Muscle (IF 4.9) Pub Date : 2022-07-06 Fukada, So-ichiro, Higashimoto, Tatsuyoshi, Kaneshige, Akihiro
Skeletal muscle homeostasis and function are ensured by orchestrated cellular interactions among several types of cells. A noticeable aspect of skeletal muscle biology is the drastic cell–cell communication changes that occur in multiple scenarios. The process of recovering from an injury, which is known as regeneration, has been relatively well investigated. However, the cellular interplay that occurs
-
High-throughput muscle fiber typing from RNA sequencing data Skelet. Muscle (IF 4.9) Pub Date : 2022-07-02 Oskolkov, Nikolay, Santel, Malgorzata, Parikh, Hemang M., Ekström, Ola, Camp, Gray J., Miyamoto-Mikami, Eri, Ström, Kristoffer, Mir, Bilal Ahmad, Kryvokhyzha, Dmytro, Lehtovirta, Mikko, Kobayashi, Hiroyuki, Kakigi, Ryo, Naito, Hisashi, Eriksson, Karl-Fredrik, Nystedt, Björn, Fuku, Noriyuki, Treutlein, Barbara, Pääbo, Svante, Hansson, Ola
Skeletal muscle fiber type distribution has implications for human health, muscle function, and performance. This knowledge has been gathered using labor-intensive and costly methodology that limited these studies. Here, we present a method based on muscle tissue RNA sequencing data (totRNAseq) to estimate the distribution of skeletal muscle fiber types from frozen human samples, allowing for a larger
-
Correction: Estrogen signaling effects on muscle-specific immune responses through controlling the recruitment and function of macrophages and T cells Skelet. Muscle (IF 4.9) Pub Date : 2022-06-24 Liao, Zhao Hong, Huang, Tao, Xiao, Jiang Wei, Gu, Rui Cai, Ouyang, Jun, Wu, Gang, Liao, Hua
Correction: Skeletal Muscle 9, 20 (2019) https://doi.org/10.1186/s13395-019-0205-2 Following publication of the original article [1], the authors subsequently identified an error in the affiliation address of the first author (Zhao Hong Liao). The corrected affiliation is shown below. 1Guangdong Provincial Key Laboratory of Medical Biomechanics, Department of Anatomy, School of Basic Medical Sciences
-
Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics Skelet. Muscle (IF 4.9) Pub Date : 2022-06-23 Haug, Michael, Reischl, Barbara, Nübler, Stefanie, Kiriaev, Leonit, Mázala, Davi A. G., Houweling, Peter J., North, Kathryn N., Friedrich, Oliver, Head, Stewart I.
A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle fibres in ~ 16% of the world’s population. This single gene polymorphism has been subject to strong positive selection pressure during recent human evolution. Previously, using an Actn3KO mouse model, we have shown in fast-twitch muscles, eccentric contractions at
-
The influence of age, sex, and exercise on autophagy, mitophagy, and lysosome biogenesis in skeletal muscle Skelet. Muscle (IF 4.9) Pub Date : 2022-06-11 Triolo, Matthew, Oliveira, Ashley N., Kumari, Rita, Hood, David A.
Aging decreases skeletal muscle mass and quality. Maintenance of healthy muscle is regulated by a balance between protein and organellar synthesis and their degradation. The autophagy-lysosome system is responsible for the selective degradation of protein aggregates and organelles, such as mitochondria (i.e., mitophagy). Little data exist on the independent and combined influence of age, biological
-
The Myotube Analyzer: how to assess myogenic features in muscle stem cells Skelet. Muscle (IF 4.9) Pub Date : 2022-06-10 Noë, Simon, Corvelyn, Marlies, Willems, Sarah, Costamagna, Domiziana, Aerts, Jean-Marie, Van Campenhout, Anja, Desloovere, Kaat
The analysis of in vitro cultures of human adult muscle stem cells obtained from biopsies delineates the potential of skeletal muscles and may help to understand altered muscle morphology in patients. In these analyses, the fusion index is a commonly used quantitative metric to assess the myogenic potency of the muscle stem cells. Since the fusion index only partly describes myogenic potency, we developed
-
Alternative splicing diversifies the skeletal muscle transcriptome during prolonged spaceflight Skelet. Muscle (IF 4.9) Pub Date : 2022-05-31 Henrich, Mason, Ha, Pin, Wang, Yuanyuan, Ting, Kang, Stodieck, Louis, Soo, Chia, Adams, John S., Chun, Rene
As the interest in manned spaceflight increases, so does the requirement to understand the transcriptomic mechanisms that underlay the detrimental physiological adaptations of skeletal muscle to microgravity. While microgravity-induced differential gene expression (DGE) has been extensively investigated, the contribution of differential alternative splicing (DAS) to the plasticity and functional status
-
Growth differentiation factor 11 induces skeletal muscle atrophy via a STAT3-dependent mechanism in pulmonary arterial hypertension Skelet. Muscle (IF 4.9) Pub Date : 2022-05-06 Xiang, Guiling, Ying, Kelu, Jiang, Pan, Jia, Mengping, Sun, Yipeng, Li, Shanqun, Wu, Xiaodan, Hao, Shengyu
Skeletal muscle wasting is a clinically remarkable phenotypic feature of pulmonary arterial hypertension (PAH) that increases the risk of mortality. Growth differentiation factor 11 (GDF11), centrally involved in PAH pathogenesis, has an inhibitory effect on skeletal muscle growth in other conditions. However, whether GDF11 is involved in the pathogenesis of skeletal muscle wasting in PAH remains unknown
-
The Notch signaling network in muscle stem cells during development, homeostasis, and disease Skelet. Muscle (IF 4.9) Pub Date : 2022-04-22 Gioftsidi, Stamatia, Relaix, Frederic, Mourikis, Philippos
Skeletal muscle stem cells have a central role in muscle growth and regeneration. They reside as quiescent cells in resting muscle and in response to damage they transiently amplify and fuse to produce new myofibers or self-renew to replenish the stem cell pool. A signaling pathway that is critical in the regulation of all these processes is Notch. Despite the major differences in the anatomical and
-
Endurance exercise attenuates juvenile irradiation-induced skeletal muscle functional decline and mitochondrial stress Skelet. Muscle (IF 4.9) Pub Date : 2022-04-12 O’Connor, Thomas N., Kallenbach, Jacob G., Orciuoli, Haley M., Paris, Nicole D., Bachman, John F., Johnston, Carl J., Hernady, Eric, Williams, Jacqueline P., Dirksen, Robert T., Chakkalakal, Joe V.
Radiotherapy is commonly used to treat childhood cancers and can have adverse effects on muscle function, but the underlying mechanisms have yet to be fully elucidated. We hypothesized that endurance exercise following radiation treatment would improve skeletal muscle function. We utilized the Small Animal Radiation Research Platform (SARRP) to irradiate juvenile male mice with a clinically relevant
-
Functional replacement of myostatin with GDF-11 in the germline of mice Skelet. Muscle (IF 4.9) Pub Date : 2022-03-15 Lee, Se-Jin, Lehar, Adam, Rydzik, Renata, Youngstrom, Daniel W., Bhasin, Shalender, Liu, Yewei, Germain-Lee, Emily L.
Myostatin (MSTN) is a transforming growth factor-ß superfamily member that acts as a major regulator of skeletal muscle mass. GDF-11, which is highly related to MSTN, plays multiple roles during embryonic development, including regulating development of the axial skeleton, kidneys, nervous system, and pancreas. As MSTN and GDF-11 share a high degree of amino acid sequence identity, behave virtually
-
Effect of chronic intermittent hypoxia (CIH) on neuromuscular junctions and mitochondria in slow- and fast-twitch skeletal muscles of mice—the role of iNOS Skelet. Muscle (IF 4.9) Pub Date : 2022-02-12 Bannow, L. I., Bonaterra, G. A., Bertoune, M., Maus, S., Schulz, R., Weissmann, N., Kraut, S., Kinscherf, R., Hildebrandt, W.
Obstructive sleep apnea (OSA) imposes vascular and metabolic risks through chronic intermittent hypoxia (CIH) and impairs skeletal muscle performance. As studies addressing limb muscles are rare, the reasons for the lower exercise capacity are unknown. We hypothesize that CIH-related morphological alterations in neuromuscular junctions (NMJ) and mitochondrial integrity might be the cause of functional
-
Muscle stem cell adaptations to cellular and environmental stress Skelet. Muscle (IF 4.9) Pub Date : 2022-02-12 Gugliuzza, Maria Vittoria, Crist, Colin
Lifelong regeneration of the skeletal muscle is dependent on a rare population of resident skeletal muscle stem cells, also named ‘satellite cells’ for their anatomical position on the outside of the myofibre and underneath the basal lamina. Muscle stem cells maintain prolonged quiescence, but activate the myogenic programme and the cell cycle in response to injury to expand a population of myogenic
-
Metabolomic signatures for the longitudinal reduction of muscle strength over 10 years Skelet. Muscle (IF 4.9) Pub Date : 2022-02-07 Werdyani, Salem, Aitken, Dawn, Gao, Zhiwei, Liu, Ming, Randell, Edward W., Rahman, Proton, Jones, Graeme, Zhai, Guangju
Skeletal muscles are essential components of the neuromuscular skeletal system that have an integral role in the structure and function of the synovial joints which are often affected by osteoarthritis (OA). The aim of this study was to identify the baseline metabolomic signatures for the longitudinal reduction of muscle strength over 10 years in the well-established community-based Tasmanian Older
-
Skeletal muscle transcriptomics identifies common pathways in nerve crush injury and ageing Skelet. Muscle (IF 4.9) Pub Date : 2022-01-29 Staunton, C. A., Owen, E. D., Hemmings, K., Vasilaki, A., McArdle, A., Barrett-Jolley, R., Jackson, M. J.
Motor unit remodelling involving repeated denervation and re-innervation occurs throughout life. The efficiency of this process declines with age contributing to neuromuscular deficits. This study investigated differentially expressed genes (DEG) in muscle following peroneal nerve crush to model motor unit remodelling in C57BL/6 J mice. Muscle RNA was isolated at 3 days post-crush, RNA libraries were
-
Novel γ-sarcoglycan interactors in murine muscle membranes Skelet. Muscle (IF 4.9) Pub Date : 2022-01-22 Smith, Tara C., Vasilakos, Georgios, Shaffer, Scott A., Puglise, Jason M., Chou, Chih-Hsuan, Barton, Elisabeth R., Luna, Elizabeth J.
The sarcoglycan complex (SC) is part of a network that links the striated muscle cytoskeleton to the basal lamina across the sarcolemma. The SC coordinates changes in phosphorylation and Ca++-flux during mechanical deformation, and these processes are disrupted with loss-of-function mutations in gamma-sarcoglycan (Sgcg) that cause Limb girdle muscular dystrophy 2C/R5. To gain insight into how the SC
-
Meeting report: the 2021 FSHD International Research Congress Skelet. Muscle (IF 4.9) Pub Date : 2022-01-17 Jagannathan, Sujatha, de Greef, Jessica C., Hayward, Lawrence J., Yokomori, Kyoko, Gabellini, Davide, Mul, Karlien, Sacconi, Sabrina, Arjomand, Jamshid, Kinoshita, June, Harper, Scott Q.
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the etiology of the disease for both FSHD type 1 and type 2 has been attributed to gain-of-toxic function stemming from aberrant DUX4 expression, the exact pathogenic
-
ViaFuse: Fiji macros to calculate skeletal muscle cell viability and fusion index Skelet. Muscle (IF 4.9) Pub Date : 2021-12-16 Hinkle, Emma Rose, Essader, Tasneem Omar, Gentile, Gabrielle Marie, Giudice, Jimena
Measuring biological features of skeletal muscle cells is difficult because of their unique morphology and multinucleate nature upon differentiation. Here, we developed a new Fiji macro package called ViaFuse (that stands for viability and fusion) to measure skeletal muscle cell viability and differentiation. To test ViaFuse, we utilized immunofluorescence images of differentiated myotubes where the
-
Evaluation of the mechanisms of sarcopenia in chronic inflammatory disease: protocol for a prospective cohort study Skelet. Muscle (IF 4.9) Pub Date : 2021-12-11 Dhaliwal, Amritpal, Williams, Felicity R., Quinlan, Jonathan I., Allen, Sophie L., Greig, Carolyn, Filer, Andrew, Raza, Karim, Ghosh, Subrata, Lavery, Gareth G., Newsome, Philip N., Choudhary, Surabhi, Breen, Leigh, Armstrong, Matthew J., Elsharkawy, Ahmed M., Lord, Janet M.
Several chronic inflammatory diseases co-exist with and accelerate sarcopenia (reduction in muscle strength, function and mass) and negatively impact on both morbidity and mortality. There is currently limited research on the extent of sarcopenia in such conditions, how to accurately assess it and whether there are generic or disease-specific mechanisms driving sarcopenia. Therefore, this study aims
-
Six1 promotes skeletal muscle thyroid hormone response through regulation of the MCT10 transporter Skelet. Muscle (IF 4.9) Pub Date : 2021-11-19 Girgis, John, Yang, Dabo, Chakroun, Imane, Liu, Yubing, Blais, Alexandre
The Six1 transcription factor is implicated in controlling the development of several tissue types, notably skeletal muscle. Six1 also contributes to muscle metabolism and its activity is associated with the fast-twitch, glycolytic phenotype. Six1 regulates the expression of certain genes of the fast muscle program by directly stimulating their transcription or indirectly acting through a long non-coding
-
The SarcoEndoplasmic Reticulum Calcium ATPase (SERCA) pump: a potential target for intervention in aging and skeletal muscle pathologies Skelet. Muscle (IF 4.9) Pub Date : 2021-11-12 Xu, Hongyang, Van Remmen, Holly
As a key regulator of cellular calcium homeostasis, the Sarcoendoplasmic Reticulum Calcium ATPase (SERCA) pump acts to transport calcium ions from the cytosol back to the sarcoplasmic reticulum (SR) following muscle contraction. SERCA function is closely associated with muscle health and function, and SERCA activity is susceptible to muscle pathogenesis. For example, it has been well reported that
-
Protein profile of fiber types in human skeletal muscle: a single-fiber proteomics study Skelet. Muscle (IF 4.9) Pub Date : 2021-11-02 Murgia, Marta, Nogara, Leonardo, Baraldo, Martina, Reggiani, Carlo, Mann, Matthias, Schiaffino, Stefano
Human skeletal muscle is composed of three major fiber types, referred to as type 1, 2A, and 2X fibers. This heterogeneous cellular composition complicates the interpretation of studies based on whole skeletal muscle lysate. A single-fiber proteomics approach is required to obtain a fiber-type resolved quantitative information on skeletal muscle pathophysiology. Single fibers were dissected from vastus
-
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel Skelet. Muscle (IF 4.9) Pub Date : 2021-09-22 Goullée, Hayley, Taylor, Rhonda L., Forrest, Alistair R. R., Laing, Nigel G., Ravenscroft, Gianina, Clayton, Joshua S.
CRISPR/Cas9 is an invaluable tool for studying cell biology and the development of molecular therapies. However, delivery of CRISPR/Cas9 components into some cell types remains a major hurdle. Primary human myoblasts are a valuable cell model for muscle studies, but are notoriously difficult to transfect. There are currently no commercial lipofection protocols tailored for primary myoblasts, and most