Dana J Murdock, Ning Wu, Joseph S Grimsby, Roberto A Calle, Stephen Donahue, David J Glass, Mark W Sleeman, Robert J Sanchez
BACKGROUND: 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). Given limited data on OLLMM (particularly in those aged < 65 years), the purpose of this study was to estimate the prevalence of OLLMM in adults aged ≥ 20 years in the USA...
December 21, 2022: Skeletal Muscle
Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A Francis, Pascal Bernatchez
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 plasma cholesterol and triglycerides. Herein, we investigate lipoprotein abnormalities in LGMD2B and if statin therapy protects dysferlin-deficient mice (Dysf) from muscle damage...
November 29, 2022: Skeletal Muscle
Keitaro Yamanouchi, Yukie Tanaka, Masanari Ikeda, Shizuka Kato, Ryosuke Okino, Hiroki Nishi, Fumihiko Hakuno, Shin-Ichiro Takahashi, James Chambers, Takashi Matsuwaki, Kazuyuki Uchida
BACKGROUND: 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 declines of mastication and swallowing in DMD is important to improve the patient's quality of life...
October 19, 2022: Skeletal Muscle
Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
BACKGROUND: 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). CASE PRESENTATION: We describe a novel proband presenting MCMD due to unpublished CHKB mutations...
September 29, 2022: Skeletal Muscle
Victoria Woschitz, Irene Mei, Eva Hedlund, Lyndsay M Murray
BACKGROUND: 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 understanding of the basis of this selective vulnerability will give critical insight into the factors which prohibit pathology in certain motor neuron populations and consequently help identify novel neuroprotective strategies...
September 12, 2022: Skeletal Muscle
Dong Zhang, Wenyan Hao, Qi Niu, Dongdong Xu, Xuejiao Duan
BACKGROUND: 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. METHODS: Twelve adult male rabbits were assigned to either an MV group or a control group under the same anesthetic conditions...
September 9, 2022: Skeletal Muscle
A Rasim Barutcu, Gabriel Elizalde, Alfredo E Gonzalez, Kartik Soni, John L Rinn, Amy J Wagers, Albert E Almada
BACKGROUND: 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 proliferating progeny of SCs can enhance their myogenic properties needs further evaluation...
August 15, 2022: Skeletal Muscle
Yaoxian Xiang, Zongqi You, Xinying Huang, Junxi Dai, Junpeng Zhang, Shuqi Nie, Lei Xu, Junjian Jiang, Jianguang Xu
BACKGROUND: 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 progerin accumulation is connected to denervation-induced muscle atrophy is not sufficient...
July 29, 2022: Skeletal Muscle
Katharina E Meijboom, Emma R Sutton, Eve McCallion, Emily McFall, Daniel Anthony, Benjamin Edwards, Sabrina Kubinski, Ines Tapken, Ines Bünermann, Gareth Hazell, Nina Ahlskog, Peter Claus, Kay E Davies, Rashmi Kothary, Matthew J A Wood, Melissa Bowerman
BACKGROUND: 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 is essential to identify the key molecules that contribute to and sustain muscle pathology...
July 28, 2022: Skeletal Muscle
So-Ichiro Fukada, Tatsuyoshi Higashimoto, Akihiro Kaneshige
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 in response to mechanical loading, such as during resistance training, is poorly understood compared to regeneration...
July 6, 2022: Skeletal Muscle
Nikolay Oskolkov, Malgorzata Santel, Hemang M Parikh, Ola Ekström, Gray J Camp, Eri Miyamoto-Mikami, Kristoffer Ström, Bilal Ahmad Mir, Dmytro Kryvokhyzha, Mikko Lehtovirta, Hiroyuki Kobayashi, Ryo Kakigi, Hisashi Naito, Karl-Fredrik Eriksson, Björn Nystedt, Noriyuki Fuku, Barbara Treutlein, Svante Pääbo, Ola Hansson
BACKGROUND: 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 number of individuals to be tested. METHODS: By using single-nuclei RNA sequencing (snRNAseq) data as a reference, cluster expression signatures were produced by averaging gene expression of cluster gene markers and then applying these to totRNAseq data and inferring muscle fiber nuclei type via linear matrix decomposition...
July 2, 2022: Skeletal Muscle
Zhao Hong Liao, Tao Huang, Jiang Wei Xiao, Rui Cai Gu, Jun Ouyang, Gang Wu, Hua Liao
No abstract text is available yet for this article.
June 24, 2022: Skeletal Muscle
Michael Haug, Barbara Reischl, Stefanie Nübler, Leonit Kiriaev, Davi A G Mázala, Peter J Houweling, Kathryn N North, Oliver Friedrich, Stewart I Head
BACKGROUND: 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 L0  + 20% stretch did not cause eccentric damage...
June 23, 2022: Skeletal Muscle
Matthew Triolo, Ashley N Oliveira, Rita Kumari, David A Hood
BACKGROUND: 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 sex, and exercise on the autophagy system and lysosome biogenesis. The purpose of this study was to characterize sex differences in autophagy and lysosome biogenesis in young and aged muscle and to determine if acute exercise influences these processes...
June 11, 2022: Skeletal Muscle
Simon Noë, Marlies Corvelyn, Sarah Willems, Domiziana Costamagna, Jean-Marie Aerts, Anja Van Campenhout, Kaat Desloovere
BACKGROUND: 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 the Myotube Analyzer tool, which combines the definition of the fusion index with extra features of myonuclei and myotubes obtained from satellite cell cultures...
June 10, 2022: Skeletal Muscle
Mason Henrich, Pin Ha, Yuanyuan Wang, Kang Ting, Louis Stodieck, Chia Soo, John S Adams, Rene Chun
BACKGROUND: 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 of the skeletal muscle transcriptome has not been studied in an animal model...
May 31, 2022: Skeletal Muscle
Guiling Xiang, Kelu Ying, Pan Jiang, Mengping Jia, Yipeng Sun, Shanqun Li, Xiaodan Wu, Shengyu Hao
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. We showed that serum GDF11 levels in patients were increased following PAH. Skeletal muscle wasting in the MCT-treated PAH model is accompanied by an increase in circulating GDF11 levels and local catabolic markers (Fbx32, Trim63, Foxo1, and protease activity)...
May 6, 2022: Skeletal Muscle
Stamatia Gioftsidi, Frederic Relaix, Philippos Mourikis
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 cellular niches between the embryonic myotome, the adult sarcolemma/basement-membrane interphase, and the regenerating muscle, Notch signaling has evolved to support the context-specific requirements of the muscle cells...
April 22, 2022: Skeletal Muscle
Thomas N O'Connor, Jacob G Kallenbach, Haley M Orciuoli, Nicole D Paris, John F Bachman, Carl J Johnston, Eric Hernady, Jacqueline P Williams, Robert T Dirksen, Joe V Chakkalakal
BACKGROUND: 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. METHODS: We utilized the Small Animal Radiation Research Platform (SARRP) to irradiate juvenile male mice with a clinically relevant fractionated dose of 3× (every other day over 5 days) 8...
April 12, 2022: Skeletal Muscle
Se-Jin Lee, Adam Lehar, Renata Rydzik, Daniel W Youngstrom, Shalender Bhasin, Yewei Liu, Emily L Germain-Lee
BACKGROUND: 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 identically in cell culture assays, and utilize similar regulatory and signaling components, a critical question is whether their distinct biological functions result from inherent differences in their abilities to interact with specific regulatory and signaling components or whether their distinct biological functions mainly reflect their differing temporal and spatial patterns of expression...
March 15, 2022: Skeletal Muscle
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