Muscle stem cell dysfunction in rhabdomyosarcoma and muscular dystrophy
Curr Top Dev Biol. 2024;158:83-121. doi: 10.1016/bs.ctdb.2024.01.019. Epub 2024 Feb 19.ABSTRACTMuscle stem cells (MuSCs) are crucial to the repair and homeostasis of mature skeletal muscle. MuSC dysfunction and dysregulation of the myogenic program can contribute to the development of pathology ranging from cancers like rhabdomyosarcoma (RMS) or muscle degenerative diseases such as Duchenne muscular dystrophy (DMD). Both diseases exhibit dysregulation at nearly all steps of myogenesis. For instance, MuSC self-renewal processes are altered. In RMS, this leads to the creation of tumor propagating cells. In DMD, impaired asym...
Source: Current Topics in Developmental Biology - April 26, 2024 Category: Biology Authors: Rebecca Robertson Shulei Li Romina L Filippelli Natasha C Chang Source Type: research
Muscle stem cell dysfunction in rhabdomyosarcoma and muscular dystrophy
Curr Top Dev Biol. 2024;158:83-121. doi: 10.1016/bs.ctdb.2024.01.019. Epub 2024 Feb 19.ABSTRACTMuscle stem cells (MuSCs) are crucial to the repair and homeostasis of mature skeletal muscle. MuSC dysfunction and dysregulation of the myogenic program can contribute to the development of pathology ranging from cancers like rhabdomyosarcoma (RMS) or muscle degenerative diseases such as Duchenne muscular dystrophy (DMD). Both diseases exhibit dysregulation at nearly all steps of myogenesis. For instance, MuSC self-renewal processes are altered. In RMS, this leads to the creation of tumor propagating cells. In DMD, impaired asym...
Source: Current Topics in Developmental Biology - April 26, 2024 Category: Biology Authors: Rebecca Robertson Shulei Li Romina L Filippelli Natasha C Chang Source Type: research
Muscle stem cell dysfunction in rhabdomyosarcoma and muscular dystrophy
Curr Top Dev Biol. 2024;158:83-121. doi: 10.1016/bs.ctdb.2024.01.019. Epub 2024 Feb 19.ABSTRACTMuscle stem cells (MuSCs) are crucial to the repair and homeostasis of mature skeletal muscle. MuSC dysfunction and dysregulation of the myogenic program can contribute to the development of pathology ranging from cancers like rhabdomyosarcoma (RMS) or muscle degenerative diseases such as Duchenne muscular dystrophy (DMD). Both diseases exhibit dysregulation at nearly all steps of myogenesis. For instance, MuSC self-renewal processes are altered. In RMS, this leads to the creation of tumor propagating cells. In DMD, impaired asym...
Source: Current Topics in Developmental Biology - April 26, 2024 Category: Biology Authors: Rebecca Robertson Shulei Li Romina L Filippelli Natasha C Chang Source Type: research
Muscle stem cell dysfunction in rhabdomyosarcoma and muscular dystrophy
Curr Top Dev Biol. 2024;158:83-121. doi: 10.1016/bs.ctdb.2024.01.019. Epub 2024 Feb 19.ABSTRACTMuscle stem cells (MuSCs) are crucial to the repair and homeostasis of mature skeletal muscle. MuSC dysfunction and dysregulation of the myogenic program can contribute to the development of pathology ranging from cancers like rhabdomyosarcoma (RMS) or muscle degenerative diseases such as Duchenne muscular dystrophy (DMD). Both diseases exhibit dysregulation at nearly all steps of myogenesis. For instance, MuSC self-renewal processes are altered. In RMS, this leads to the creation of tumor propagating cells. In DMD, impaired asym...
Source: Current Topics in Developmental Biology - April 26, 2024 Category: Biology Authors: Rebecca Robertson Shulei Li Romina L Filippelli Natasha C Chang Source Type: research
Pannexin 1 dysregulation in Duchenne muscular dystrophy and its exacerbation of dystrophic features in mdx mice
Duchenne muscular dystrophy (DMD) is associated with impaired muscle regeneration, progressive muscle weakness, damage, and wasting. While the cause of DMD is an X-linked loss of function mutation in the gene ... (Source: Skeletal Muscle)
Source: Skeletal Muscle - April 26, 2024 Category: Research Authors: Emily Freeman, St éphanie Langlois, Marcos F. Leyba, Tarek Ammar, Zacharie Léger, Hugh J. McMillan, Jean-Marc Renaud, Bernard J. Jasmin and Kyle N. Cowan Tags: Research Source Type: research
Right ventricular preload and afterload challenge induces contractile dysfunction and arrhythmia in isolated hearts of dystrophin ‐deficient male mice
AbstractDuchenne muscular dystrophy (DMD) is an X-linked recessive myopathy due to mutations in the dystrophin gene. Diaphragmatic weakness in DMD causes hypoventilation and elevated afterload on the right ventricle (RV). Thus, RV dysfunction in DMD develops early in disease progression. Herein, we deliver a 30-min sustained RV preload/afterload challenge to isolated hearts of wild-type (Wt) and dystrophic (Dmdmdx-4Cv) mice at both young (2 –6 month) and middle-age (8–12 month) to test the hypothesis that the dystrophic RV is susceptible to dysfunction with elevated load. Young dystrophic hearts exhibited greater p...
Source: Physiological Reports - April 25, 2024 Category: Physiology Authors: Andrew Behrmann,
Jessica Cayton,
Matthew R. Hayden,
Michelle D. Lambert,
Zahra Nourian,
Keith Nyanyo,
Brooke Godbee,
Laurin M. Hanft,
Maike Krenz,
Kerry S. McDonald,
Timothy L. Domeier Tags: ORIGINAL ARTICLE Source Type: research
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
European Journal of Human Genetics, Published online: 25 April 2024; doi:10.1038/s41431-024-01577-zThe first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 25, 2024 Category: Genetics & Stem Cells Authors: Venugopalan Y. Vishnu Richard J. L. F. Lemmers Alisha Reyaz Rinkle Mishra Tanveer Ahmad Patrick J. van der Vliet Marcelina M. Kretkiewicz William L. Macken Stephanie Efthymiou Natalia Dominik Jasper M. Morrow Rohit Bhatia Lindsay A. Wilson Henry Houlden M Source Type: research
Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure
AbstractAdaptation of humans to challenging environmental conditions, such as extreme temperature, malnutrition, or hypoxia, is an interesting phenomenon for both basic and applied research. Identification of the genetic factors contributing to human adaptation to these conditions enhances our understanding of the underlying molecular and physiological mechanisms. In our study, we analyzed the exomes of 22 high altitude mountaineers to uncover genetic variants contributing to hypoxic adaptation. To our surprise, we identified two putative loss-of-function variants, rs1385101139 inRTEL1 and rs1002726737 inCOL6A1 in two extr...
Source: Physiological Reports - April 24, 2024 Category: Physiology Authors: Evgeniia M. Maksiutenko,
Valeriia Merkureva,
Yury A. Barbitoff,
Victoria V. Tsay,
Mikhail V. Aseev,
Andrey S. Glotov,
Oleg S. Glotov Tags: SHORT REPORT Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: Am J Physiol Cell Ph... - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: American Journal of Physiology. Cell Physiology - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: Am J Physiol Cell Ph... - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: American Journal of Physiology. Cell Physiology - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: Am J Physiol Cell Ph... - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: American Journal of Physiology. Cell Physiology - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: Am J Physiol Cell Ph... - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research
