journal
https://read.qxmd.com/read/38454511/motor-neurons-and-endothelial-cells-additively-promote-development-and-fusion-of-human-ipsc-derived-skeletal-myocytes
#1
JOURNAL ARTICLE
Suradip Das, Melanie C Hilman, Feikun Yang, Foteini Mourkioti, Wenli Yang, D Kacy Cullen
BACKGROUND: 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. METHODS: Here, we report a triculture system comprising human-induced pluripotent stem cell (iPSC)-derived skeletal myocytes, human iPSC-derived motor neurons, and primary human endothelial cells maintained under controlled media conditions...
March 7, 2024: Skeletal Muscle
https://read.qxmd.com/read/38454497/metabolic-signatures-and-potential-biomarkers-of-sarcopenia-in-suburb-dwelling-older-chinese-based-on-untargeted-gc-ms-and-lc-ms
#2
JOURNAL ARTICLE
Peipei Han, Chunhua Yuan, Xiaoyu Chen, Yuanqing Hu, Xiaodan Hu, Zhangtao Xu, Qi Guo
BACKGROUND: 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. METHODS: Forty-eight elderly subjects with sarcopenia were age and sex matched with 48 elderly subjects without sarcopenia...
March 7, 2024: Skeletal Muscle
https://read.qxmd.com/read/38389096/a-knock-down-strategy-for-rapid-generic-and-versatile-modelling-of-muscular-dystrophies-in-3d-tissue-engineered-skeletal-muscle
#3
JOURNAL ARTICLE
Stijn L M In 't Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C de Greef, W W M Pim Pijnappel
BACKGROUND: 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 isogenic hiPSC-derived 3D-TESMs can take up to 6 months, thereby reducing throughput...
February 22, 2024: Skeletal Muscle
https://read.qxmd.com/read/38229112/n-terminal-titin-fragment-a-non-invasive-pharmacodynamic-biomarker-for-microdystrophin-efficacy
#4
JOURNAL ARTICLE
Jessica F Boehler, Kristy J Brown, Valeria Ricotti, Carl A Morris
BACKGROUND: 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 may be useful in enhancing observed clinical results. Creatine kinase (CK) is traditionally used as a diagnostic biomarker of DMD, but its potential as a robust pharmacodynamic (PD) biomarker is difficult due to the wide variability seen within the same participant over time...
January 16, 2024: Skeletal Muscle
https://read.qxmd.com/read/38172960/the-musk-bmp-pathway-maintains-myofiber-size-in-slow-muscle-through-regulation-of-akt-mtor-signaling
#5
JOURNAL ARTICLE
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 of the MuSK-BMP pathway in vivo, we generated mice lacking the BMP-binding MuSK Ig3 domain. These ∆Ig3-MuSK mice are viable and fertile with innervation levels comparable to wild type...
January 3, 2024: Skeletal Muscle
https://read.qxmd.com/read/38115119/restoring-skeletal-muscle-mass-as-an-independent-determinant-of-liver-fat-deposition-improvement-in-mafld
#6
JOURNAL ARTICLE
Ting Zhou, Junzhao Ye, Ling Luo, Wei Wang, Shiting Feng, Zhi Dong, Shuyu Zhuo, Bihui Zhong
AIMS: 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. METHODS: MAFLD patients undergoing magnetic resonance imaging-based proton density fat fraction for liver fat content (LFC) assessments and bioelectrical impedance analysis before and after treatment (orlistat, meal replacement, lifestyle modifications) were enrolled...
December 19, 2023: Skeletal Muscle
https://read.qxmd.com/read/38115079/eldecalcitol-prevents-muscle-loss-and-osteoporosis-in-disuse-muscle-atrophy-via-nf-%C3%AE%C2%BAb-signaling-in-mice
#7
JOURNAL ARTICLE
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 (TA), and soleus (SOL) were determined. Oxidative stress was evaluated by malondialdehyde, superoxide dismutase, glutathione peroxidase, and catalase...
December 19, 2023: Skeletal Muscle
https://read.qxmd.com/read/38104132/hypoxia-enhances-human-myoblast-differentiation-involvement-of-hif1%C3%AE-and-impact-of-dux4-the-fshd-causal-gene
#8
JOURNAL ARTICLE
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
BACKGROUND: 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 response characterizes the muscles of patients with facioscapulohumeral dystrophy (FSHD)...
December 16, 2023: Skeletal Muscle
https://read.qxmd.com/read/38044436/replenishing-nad-content-reduces-aspects-of-striated-muscle-disease-in-a-dog-model-of-duchenne-muscular-dystrophy
#9
JOURNAL ARTICLE
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, gene therapy approaches partially restore micro-dystrophin or quasi-dystrophin expression. However, despite extensive attempts to develop definitive therapies for DMD, the standard of care remains corticosteroid, which has only palliative benefits...
December 4, 2023: Skeletal Muscle
https://read.qxmd.com/read/37980539/electrical-impedance-myography-detects-dystrophin-related-muscle-changes-in-mdx-mice
#10
JOURNAL ARTICLE
Tetsuaki Hiyoshi, Fuqiang Zhao, Rina Baba, Takeshi Hirakawa, Ryosuke Kuboki, Kazunori Suzuki, Yoshiro Tomimatsu, Patricio O'Donnell, Steve Han, Neta Zach, Masato Nakashima
BACKGROUND: 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 biomarker in diverse indications. Although magnetic resonance imaging (MRI) of skeletal muscles has become a standard measurement in clinical trials for DMD, EIM offers distinct advantages, such as portability, user-friendliness, and reduced cost, allowing for remote monitoring of disease progression or response to therapy...
November 18, 2023: Skeletal Muscle
https://read.qxmd.com/read/37936227/tropomyosin-3-tpm3-function-in-skeletal-muscle-and-in-myopathy
#11
REVIEW
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 gene have been associated with the features of congenital myopathies. The use of different in vitro and in vivo model systems has leveraged the discovery of several disease mechanisms associated with TPM3-related myopathy...
November 7, 2023: Skeletal Muscle
https://read.qxmd.com/read/37898813/dna-methylation-of-insulin-signaling-pathways-is-associated-with-homa2-ir-in-primary-myoblasts-from-older-adults
#12
JOURNAL ARTICLE
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
BACKGROUND: 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 human primary muscle stem cells (myoblasts) from community-dwelling older individuals...
October 28, 2023: Skeletal Muscle
https://read.qxmd.com/read/37705115/sox11-is-enriched-in-myogenic-progenitors-but-dispensable-for-development-and-regeneration-of-the-skeletal-muscle
#13
JOURNAL ARTICLE
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 (scRNA-seq) datasets identify a specific enrichment of Sox11 mRNA in differentiating but not quiescent MuSCs...
September 13, 2023: Skeletal Muscle
https://read.qxmd.com/read/37705069/biomarkers-for-duchenne-muscular-dystrophy-progression-impact-of-age-in-the-mdx-tongue-spared-muscle
#14
JOURNAL ARTICLE
Marcelo Dos Santos Voltani Lorena, Estela Kato Dos Santos, Renato Ferretti, G A Nagana Gowda, Guy L Odom, Jeffrey S Chamberlain, Cintia Yuri Matsumura
BACKGROUND: 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 DMD, the tongue muscles exhibit unique behavior, initially showing partial protection against inflammation but later experiencing fibrosis and loss of muscle fibers...
September 13, 2023: Skeletal Muscle
https://read.qxmd.com/read/37612778/musclej2-a-rebuilding-of-musclej-with-new-features-for-high-content-analysis-of-skeletal-muscle-immunofluorescence-slides
#15
JOURNAL ARTICLE
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 tool that initially allows the analysis of muscle fibers, capillaries, and satellite cells. Since its creation, it has been used in many studies, and we have further developed the software and added new features, which are presented in this article...
August 23, 2023: Skeletal Muscle
https://read.qxmd.com/read/37573332/fusion-of-myofibre-branches-is-a-physiological-feature-of-healthy-human-skeletal-muscle-regeneration
#16
JOURNAL ARTICLE
Grith Højfeldt, Trent Sorenson, Alana Gonzales, Michael Kjaer, Jesper L Andersen, Abigail L Mackey
BACKGROUND: 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 electrical stimulation, remnants of regeneration can be seen in the myofibre and its basement membrane as the presence of small myofibres and encroachment of sarcolemma and basement membrane (suggestive of myofibre branching/splitting)...
August 12, 2023: Skeletal Muscle
https://read.qxmd.com/read/37537627/development-of-muscle-weakness-in-a-mouse-model-of-critical-illness-does-fibroblast-growth-factor-21-play-a-role
#17
JOURNAL ARTICLE
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
BACKGROUND: 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 acute lung, liver, kidney and brain injury. However, FGF21 has also been shown to mediate fasting-induced loss of muscle mass and force...
August 4, 2023: Skeletal Muscle
https://read.qxmd.com/read/37438807/age-related-gene-expression-signatures-from-limb-skeletal-muscles-and-the-diaphragm-in-mice-and-rats-reveal-common-and-species-specific-changes
#18
JOURNAL ARTICLE
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
BACKGROUND: 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. METHODS AND RESULTS: To understand the changes in gene expression that occur as a result of aging in skeletal muscles, we generated a multi-time-point gene expression signature throughout the lifespan of mice and rats, as these are the most commonly used species in preclinical research and intervention testing...
July 12, 2023: Skeletal Muscle
https://read.qxmd.com/read/37217920/trim32-biallelic-defects-cause-limb-girdle-muscular-dystrophy-r8-identification-of-two-novel-mutations-and-investigation-of-genotype-phenotype-correlation
#19
JOURNAL ARTICLE
Yuqing Guan, Xiongda Liang, Wei Li, Wanying Lin, Guanxia Liang, Hongting Xie, Yu Hou, Yafang Hu, Xuan Shang
BACKGROUND: 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. METHODS: We performed whole-genome sequencing (WGS) and Sanger sequencing on the proband. Meanwhile, the function of mutant TRIM32 protein was analyzed by bioinformatics and experimental analysis...
May 22, 2023: Skeletal Muscle
https://read.qxmd.com/read/37208786/rapid-restitution-of-contractile-dysfunction-by-synthetic-copolymers-in-dystrophin-deficient-single-live-skeletal-muscle-fibers
#20
JOURNAL ARTICLE
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 effectiveness in restoring contractile function in dystrophin-deficient live skeletal muscle fibers. After isolating FDB fibers via enzymatic digestion and trituration from thirty-three adult male mice (9 C57BL10, 24 mdx), these were plated on a laminin-coated coverslip and treated with poloxamer 188 (P188; PEO75 -PPO30 -PEO75 ; 8400 g/mol), architecturally inverted triblock (PPO15 -PEO200 -PPO15 , 10,700 g/mol), and diblock (PEO75 -PPO16 -C4 , 4200 g/mol) copolymers...
May 19, 2023: Skeletal Muscle
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