Journal of Muscle Research and Cell Motility最新文献

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Enduring effects of acute prenatal ischemia in rat soleus muscle, and protective role of erythropoietin. 产前急性缺血对大鼠比目鱼肌的持久影响以及促红细胞生成素的保护作用
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-03-01 Epub Date: 2024-11-16 DOI: 10.1007/s10974-024-09684-6
Tiphaine Sancerni, Valérie Montel, Julie Dereumetz, Laetitia Cochon, Jacques-Olivier Coq, Bruno Bastide, Marie-Hélène Canu
{"title":"Enduring effects of acute prenatal ischemia in rat soleus muscle, and protective role of erythropoietin.","authors":"Tiphaine Sancerni, Valérie Montel, Julie Dereumetz, Laetitia Cochon, Jacques-Olivier Coq, Bruno Bastide, Marie-Hélène Canu","doi":"10.1007/s10974-024-09684-6","DOIUrl":"10.1007/s10974-024-09684-6","url":null,"abstract":"<p><p>Motor disorders are considered to originate mainly from brain lesions. Placental dysfunction or maternal exposure to a persistently hypoxic environment is a major cause of further motor disorders such as cerebral palsy. Our main goal was to determine the long-term effects of mild intrauterine acute ischemic stress on rat soleus myofibres and whether erythropoietin treatment could prevent these changes. Rat embryos were subjected to ischemic stress at embryonic day E17. They then received an intraperitoneal erythropoietin injection at postnatal days 1-5. Soleus muscles were collected at postnatal day 28. Prenatal ischemic stress durably affected muscle structure, as indicated by the greater fiber cross-sectional area (+ 18%) and the greater number of mature vessels (i.e. vessels with mature endothelial cells) per myofibres (+ 43%), and muscle biochemistry, as shown by changes in signaling pathways involved in protein synthesis/degradation balance (-81% for 4EBP1; -58% for AKT) and Hif1α expression levels (+ 95%). Erythropoietin injection in ischemic pups had a weak protective effect: it increased muscle mass (+ 25% with respect to ischemic pups) and partially prevented the increase in muscle degradation pathways and mature vascularization, whereas it exacerbated the decrease in synthesis pathways. Hence, erythropoietin treatment after acute ischemic stress contributes to muscle adaptation to ischemic conditions.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":"23-34"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Numb family proteins play roles in Desmin and Vimentin localization at the Z-disc. 麻木家族蛋白在z盘的Desmin和Vimentin定位中起作用。
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-03-01 Epub Date: 2024-12-15 DOI: 10.1007/s10974-024-09687-3
Baolei Wang, Shujuan Li, Yan Yang, Jinfeng Luo
{"title":"Numb family proteins play roles in Desmin and Vimentin localization at the Z-disc.","authors":"Baolei Wang, Shujuan Li, Yan Yang, Jinfeng Luo","doi":"10.1007/s10974-024-09687-3","DOIUrl":"10.1007/s10974-024-09687-3","url":null,"abstract":"<p><p>Desmin and Vimentin are major intermediate filaments at the Z-disc and play significant roles in sarcomere architecture and signaling transduction. Abnormal expression of sarcomeric Desmin and Vimentin (SDV) results in severe dysfunctions of striated muscles. In this study, it was found that paired Numb family proteins (NFPs), including Numb and its homolog Numblike, determined the range for the recruitment of SDV to the primitive Z-disc. Notably, NFPs were identified as SDV associated proteins and bound to the head, rod, and tail domains of SDV in a splicing-variant-dependent manner. Last, the construction and consolidation of the Z-disc was completed through the gradual adjustment of the position of SDV by clockwise/anticlockwise rotation of paired NFPs to 90° in the same direction. Conditional knockout of NFPs altered the arrangement and accumulated the expression level of SDV. This study further enriches the functions of NFPs in sarcomere assembly and maintenance through cooperation with SDV.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":"9-22"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Muscle spindle receptors and their impact on Parkinson´s disease and Cerebral Palsy subjects. 肌肉主轴受体及其对帕金森病和脑瘫患者的影响。
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-03-01 Epub Date: 2024-11-14 DOI: 10.1007/s10974-024-09682-8
Else Marie Bartels, Adrian Harrison
{"title":"Muscle spindle receptors and their impact on Parkinson´s disease and Cerebral Palsy subjects.","authors":"Else Marie Bartels, Adrian Harrison","doi":"10.1007/s10974-024-09682-8","DOIUrl":"10.1007/s10974-024-09682-8","url":null,"abstract":"<p><p>In some neurological conditions, like Parkinson's disease (PD) and Cerebral Palsy (CP), as well as with ageing, muscle spindles have been mentioned as participating in the pathological response of observed muscles. The aim of this review has therefore been to examine what is known about muscle spindle receptors, their function and how they are involved in regulating precise muscle movement in relation to these two conditions. Data from acoustic myography (AMG) studies with healthy controls (HC), CP and PD subjects have been re-examined with a view to identifying possible effects of changes in muscle movement which could be related to muscle spindle receptor function. Studies of muscle spindles have shown that during shortening and lengthening contractions the fusimotor system is activated differently with different discharge frequencies and sensitivities. With increasing age comes a loss of precise proprioception, something that coincides with a change in the AMG E-score towards lower values, indicating a reduced level of coordination and efficiency of muscle use. With PD and CP there is likewise a documented decrease in proprioception, also showing lower E-values than age-matched HC subjects. We conclude that the decrease in proprioception observed in these subjects must be partly due to a change in the muscle spindle / C-centre feedback system.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":"1-8"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11865145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unraveling the bidirectional relationship between muscle inflammation and satellite cells activity: influencing factors and insights. 揭示肌肉炎症与卫星细胞活性之间的双向关系:影响因素与启示。
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-03-01 Epub Date: 2024-11-07 DOI: 10.1007/s10974-024-09683-7
Esmail Karami, Behzad Bazgir, Hossein Shirvani, Mohammad Taghi Mohammadi, Mansoor Khaledi
{"title":"Unraveling the bidirectional relationship between muscle inflammation and satellite cells activity: influencing factors and insights.","authors":"Esmail Karami, Behzad Bazgir, Hossein Shirvani, Mohammad Taghi Mohammadi, Mansoor Khaledi","doi":"10.1007/s10974-024-09683-7","DOIUrl":"10.1007/s10974-024-09683-7","url":null,"abstract":"<p><p>Inflammation stands as a vital and innate function of the immune system, essential for maintaining physiological homeostasis. Its role in skeletal muscle regeneration is pivotal, with the activation of satellite cells (SCs) driving the repair and generation of new myofibers. However, the relationship between inflammation and SCs is intricate, influenced by various factors. Muscle injury and repair prompt significant infiltration of immune cells, particularly macrophages, into the muscle tissue. The interplay of cytokines and chemokines from diverse cell types, including immune cells, fibroadipogenic progenitors, and SCs, further shapes the inflammation-SCs dynamic. While some studies suggest heightened inflammation associates with reduced SC activity and increased fibro- or adipogenesis, others indicate an inflammatory stimulus benefits SC function. Yet, the existing literature struggles to delineate clearly between the stimulatory and inhibitory effects of inflammation on SCs and muscle regeneration. This paper comprehensively reviews studies exploring the impact of pharmacological agents, dietary interventions, genetic factors, and exercise regimes on the interplay between inflammation and SC activity.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":"35-51"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rbm24-mediated post-transcriptional regulation of skeletal and cardiac muscle development, function and regeneration. rbm24介导的骨骼肌和心肌发育、功能和再生的转录后调控。
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-03-01 Epub Date: 2024-11-30 DOI: 10.1007/s10974-024-09685-5
De-Li Shi, Raphaëlle Grifone, Xiangmin Zhang, Hongyan Li
{"title":"Rbm24-mediated post-transcriptional regulation of skeletal and cardiac muscle development, function and regeneration.","authors":"De-Li Shi, Raphaëlle Grifone, Xiangmin Zhang, Hongyan Li","doi":"10.1007/s10974-024-09685-5","DOIUrl":"10.1007/s10974-024-09685-5","url":null,"abstract":"<p><p>RNA-binding proteins are critically involved in the post-transcriptional control of gene expression during embryonic development and in adult life, contributing to regulating cell differentiation and maintaining tissue homeostasis. Compared to the relatively well documented functions of transcription factors, the regulatory roles of RNA-binding proteins in muscle development and function remain largely elusive. However, deficiency of many RNA-binding proteins has been associated with muscular defects, neuromuscular disorders and heart diseases, such as myotonic dystrophy, amyotrophic lateral sclerosis, and cardiomyopathy. Rbm24 is highly conserved among vertebrates and is one of the best characterized RNA-binding proteins with crucial implication in the myogenic and cardiomyogenic programs. It presents the distinctive particularity of displaying highly restricted expression in both skeletal and cardiac muscles, with changes in subcellular localization during the process of differentiation. Functional analyses using different vertebrate models have clearly demonstrated its requirement for skeletal muscle differentiation and regeneration as well as for myocardium organization and cardiac function, by regulating the expression of both common and distinct target genes in these tissues. The challenge remains to decipher the dynamic feature of post-transcriptional circuits regulated by Rbm24 during skeletal myogenesis, cardiomyogenesis, and muscle repair. This review discusses current understanding of its function in striated muscles and its possible implication in human disease, with the aim of identifying research gaps for future investigation.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":"53-65"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The influences of ARHGEF9 on myoblasts migration and differentiation.
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-02-24 DOI: 10.1007/s10974-025-09692-0
Shuang Li, Jin Xu, Wenjia Zhang, Yongze Liu, Huili Tong, Bingchen Liu
{"title":"The influences of ARHGEF9 on myoblasts migration and differentiation.","authors":"Shuang Li, Jin Xu, Wenjia Zhang, Yongze Liu, Huili Tong, Bingchen Liu","doi":"10.1007/s10974-025-09692-0","DOIUrl":"https://doi.org/10.1007/s10974-025-09692-0","url":null,"abstract":"<p><p>Rho guanine nucleotide exchange factor 9 (ARHGEF9), as a protein that assists small GTPases, is widely present in various tissues. It has been reported to play an important role mainly in neurological diseases and gliomas. However, there have been no reports on its impact on skeletal muscle regeneration after injury. This study first demonstrated a significant increase in ARHGEF9 protein expression during the regeneration of skeletal muscle post-injury in mice. Secondly, during the differentiation of mouse C2C12 myoblasts, ARHGEF9 significantly increased and co-localized with actin filaments. Inhibition of ARHGEF9 significantly downregulated the migration rate and actin filaments polymerization of mouse C2C12 myoblasts, and significantly reduced the expression of proteins related to cell migration. Finally, inhibition of ARHGEF9 significantly reduced the differentiation ability of mouse C2C12 myoblasts. In summary, ARHGEF9 impacting on myoblasts migration and differentiation suggests that targeting ARHGEF9 could be beneficial for promoting skeletal muscle regeneration and repair.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Plasticity in leukocyte migration during haematopoiesis and inflammation.
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-02-18 DOI: 10.1007/s10974-025-09691-1
C Villella, M Ciccioli, I M Anton, Y Calle
{"title":"Plasticity in leukocyte migration during haematopoiesis and inflammation.","authors":"C Villella, M Ciccioli, I M Anton, Y Calle","doi":"10.1007/s10974-025-09691-1","DOIUrl":"https://doi.org/10.1007/s10974-025-09691-1","url":null,"abstract":"<p><p>Under normal physiological conditions, leukocytes and other tissue resident immune cells have been shown to migrate using the mesenchymal (integrin/adhesion dependent) and/or ameboid (integrin/adhesion independent) modes of migration. The objective of this manuscript is to provide a comprehensive literature review that illustrates how leukocytes display high levels of plasticity shifting between ameboid to mesenchymal modes of migration during haematopoiesis and the inflammatory response. This plasticity is shaped by the reciprocal regulation between the pattern of gene expression associated with their haematopoietic lineage or the leukocyte activation status, and the response to the physicochemical and topological characteristics of the surrounding tissue. The use of some common elements from the F-actin polymerising and actomyosin machinery in both modes of migration may facilitate the high capacity of leukocytes to alternate between the two migration modes while navigating a highly heterogenous landscape of physicochemical cues in their anatomical journey. We discuss this paradigm using detailed examples of specific leukocyte populations such as dendritic cells, macrophages and lymphocytes. We propose that cell adhesions involved in leukocyte migration represent signalling hubs where differentiation and physicochemical cues converge. These molecular complexes then generate signalling outputs that coordinate leukocyte expansion, differentiation, and optimal patterns of cell migration during haematopoiesis and leukocyte recruitment to inflammation sites.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Differential impact of substrates on myosin heavy and light chain expression in human stem cell-derived cardiomyocytes at single-cell level.
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-02-13 DOI: 10.1007/s10974-025-09690-2
Felix Osten, Alea K Bodenschatz, Karina Ivaskevica, Simon Kröhn, Birgit Piep, Tim Holler, Jana Teske, Judith Montag, Bogdan Iorga, Natalie Weber, Robert Zweigerdt, Theresia Kraft, Joachim D Meissner
{"title":"Differential impact of substrates on myosin heavy and light chain expression in human stem cell-derived cardiomyocytes at single-cell level.","authors":"Felix Osten, Alea K Bodenschatz, Karina Ivaskevica, Simon Kröhn, Birgit Piep, Tim Holler, Jana Teske, Judith Montag, Bogdan Iorga, Natalie Weber, Robert Zweigerdt, Theresia Kraft, Joachim D Meissner","doi":"10.1007/s10974-025-09690-2","DOIUrl":"https://doi.org/10.1007/s10974-025-09690-2","url":null,"abstract":"<p><p>To fully exploit the potential of human pluripotent stem cell-derived cardiomyocytes, ideally they should acquire a mature, adult ventricular-like phenotype. Predominant expression of the β-isoform of myosin heavy chain (β-MyHC) and the ventricular isoform of myosin regulatory light chain 2 (MLC2v) is a marker of human adult cardiac ventricle. Yet predominant co-expression of these isoforms is rarely reported by current culture protocols. Here, we assessed the impact of different substrates on β-MyHC and MLC2v expression in single human embryonic stem cell-derived CMs (hESC-CMs). As substrates, surface materials with differing stiffness as defined by Young's modulus were combined with either laminin, a single-component coating, or Matrigel, a multi-component coating including growth factors. Semi-quantitative single-cell immunofluorescence analysis demonstrated that surfaces with supraphysiological stiffness in combination with laminin are sufficient for promotion of predominant β-MyHC expression, but not for predominant MLC2v expression in hESC-CMs. Accordingly, mechanical stimuli likely promote expression of β-MyHC in these cultures. Culture on matrices with a lower stiffness than glass in combination with growth factor-containing Matrigel led to only moderate increases in MLC2v expression, possibly more dependent on growth factors, suggesting different regulation of expression. Integrin-related downstream signal transducers, integrin-linked and cardiac troponin I-interacting kinase, as well as modulation of intracellular Ca<sup>2+</sup>-concentration and epigenetic signaling did not affect MyHC/MLC2 isoform expression. The data indicate that expression of adult ventricular markers β-MyHC and MLC2v depends on different stimuli like substrate stiffness and growth factors. To conclude, multiple stimuli appear to be necessary to promote an adult ventricular phenotype.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fluorescence lifetime imaging microscopy of endogenous fluorophores in health and disease.
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-02-13 DOI: 10.1007/s10974-025-09689-9
Barbara Elsnicova
{"title":"Fluorescence lifetime imaging microscopy of endogenous fluorophores in health and disease.","authors":"Barbara Elsnicova","doi":"10.1007/s10974-025-09689-9","DOIUrl":"https://doi.org/10.1007/s10974-025-09689-9","url":null,"abstract":"<p><p>Fluorescence Lifetime Imaging Microscopy (FLIM) of endogenous fluorophores has recently emerged as a powerful, marker-free, and non-invasive tool for investigating cellular metabolism. This cutting-edge imaging technique provides valuable insights into cellular energy states by measuring the fluorescence lifetimes of intrinsically fluorescent redox cofactors. The lifetimes of these cofactors reflect their binding states to enzymes, thus indicating enzymatic activity within specific metabolic pathways. As a result, FLIM can help to reveal the overall redox status of the cell and, to some extent, shifts between oxidative phosphorylation and glycolysis. The application of FLIM in metabolic research has shown significant progress across a diverse range of pathological contexts, including cancer, diabetes, neurodegenerative disorders, and various forms of cardiopathology.The aim of this mini-review is to introduce the methodology of NAD(P)H and FAD/FMN FLIM, outline its underlying principles, and demonstrate its ability to reveal changes in cellular metabolism. Additionally, this mini-review highlights FLIM's potential for understanding cellular redox states, detecting metabolic shifts in various disease models, and contributing to the development of therapeutic strategies.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.
IF 1.8 3区 生物学
Journal of Muscle Research and Cell Motility Pub Date : 2025-01-30 DOI: 10.1007/s10974-024-09688-2
Katarzyna Chwalenia, Matthew J A Wood, Thomas C Roberts
{"title":"Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.","authors":"Katarzyna Chwalenia, Matthew J A Wood, Thomas C Roberts","doi":"10.1007/s10974-024-09688-2","DOIUrl":"https://doi.org/10.1007/s10974-024-09688-2","url":null,"abstract":"<p><p>Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin. However, the efficacy of these compounds is very limited, with delivery remaining a key obstacle to effective therapy. There is therefore an urgent need for improved ASO technologies with better efficacy, and with applicability to a wider range of patient mutations. Here we discuss recent developments in ASO therapies for DMD, and future prospects with a focus on ASO chemical modification and bioconjugation strategies.</p>","PeriodicalId":16422,"journal":{"name":"Journal of Muscle Research and Cell Motility","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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