Pub Date : 2025-11-01Epub Date: 2025-11-28DOI: 10.1051/medsci/2025170
Anna Rausch de Traubenberg, Caroline E Brun
Muscle stem cells are the gatekeepers of skeletal muscle integrity throughout life. They ensure muscle regeneration in case of a tissue injury. This process requires a precise reception of the environmental cues and an adequate cellular response from these specialized progenitor cells. They possess a primary cilium, a cellular antenna dedicated for reception and transduction of environmental signals. Several recent studies show that this organelle actively mediates signaling required for muscle stem cell quiescence maintenance, proliferation and fate. Here, we review the latest advances that revealed the role of the primary cilium in regulating the function of these muscle-resident stem cells.
{"title":"[The primary cilium: a key signaling antenna for muscle stem cell function].","authors":"Anna Rausch de Traubenberg, Caroline E Brun","doi":"10.1051/medsci/2025170","DOIUrl":"https://doi.org/10.1051/medsci/2025170","url":null,"abstract":"<p><p>Muscle stem cells are the gatekeepers of skeletal muscle integrity throughout life. They ensure muscle regeneration in case of a tissue injury. This process requires a precise reception of the environmental cues and an adequate cellular response from these specialized progenitor cells. They possess a primary cilium, a cellular antenna dedicated for reception and transduction of environmental signals. Several recent studies show that this organelle actively mediates signaling required for muscle stem cell quiescence maintenance, proliferation and fate. Here, we review the latest advances that revealed the role of the primary cilium in regulating the function of these muscle-resident stem cells.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 Hors série n° 2 ","pages":"38-42"},"PeriodicalIF":0.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145635212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01Epub Date: 2025-12-12DOI: 10.1051/medsci/2025219
Agathe Crémades, Jody Dacaud, Eline Bellet, Émilie Camiade
{"title":"[Chimeric phage associated with a base editor: a tool for microbiota genetic modification].","authors":"Agathe Crémades, Jody Dacaud, Eline Bellet, Émilie Camiade","doi":"10.1051/medsci/2025219","DOIUrl":"https://doi.org/10.1051/medsci/2025219","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 11","pages":"949-951"},"PeriodicalIF":0.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01Epub Date: 2025-12-12DOI: 10.1051/medsci/2025189
Céline Bon
{"title":"[Dispersal of steppe populations and Indo-European languages: a first globalisation?]","authors":"Céline Bon","doi":"10.1051/medsci/2025189","DOIUrl":"https://doi.org/10.1051/medsci/2025189","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 11","pages":"930-934"},"PeriodicalIF":0.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01Epub Date: 2025-12-12DOI: 10.1051/medsci/2025187
Sophie de Tocqueville, Patrick Revy
Spontaneous (somatic) mutations accumulate naturally over time in all tissues of healthy individuals. This phenomenon contributes to the progressive degeneration of biological systems associated with aging and the development of cancers. However, in the context of mendelian diseases, i.e. those caused by germline monogenic mutations, spontaneous somatic mutations can sometimes counterbalance the deleterious effect of the germline defect conferring a selective advantage to cells. This phenomenon, known as somatic genetic rescue, can have important implications for the diagnosis and progression of the disease.
{"title":"[Somatic genetic rescue in mendelian hematopoietic diseases: from cellular darwinism to natural gene therapy].","authors":"Sophie de Tocqueville, Patrick Revy","doi":"10.1051/medsci/2025187","DOIUrl":"10.1051/medsci/2025187","url":null,"abstract":"<p><p>Spontaneous (somatic) mutations accumulate naturally over time in all tissues of healthy individuals. This phenomenon contributes to the progressive degeneration of biological systems associated with aging and the development of cancers. However, in the context of mendelian diseases, i.e. those caused by germline monogenic mutations, spontaneous somatic mutations can sometimes counterbalance the deleterious effect of the germline defect conferring a selective advantage to cells. This phenomenon, known as somatic genetic rescue, can have important implications for the diagnosis and progression of the disease.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 11","pages":"877-886"},"PeriodicalIF":0.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01Epub Date: 2025-11-28DOI: 10.1051/medsci/2025169
Tanya Stojkovic, Marc Bitoun
Neuropathies and myopathies have long been studied separately, with little or no overlap described between the two entities. However, the advent of high-throughput molecular biology over the past 20 years led to the discovery of mutations in the same gene causing hereditary myopathies and neuropathies. While this overlap is well known for mitochondrial genes, it is more unexpected for genes such as BAG3, DES, and CRYAB, which are mutated both in myofibrillar myopathies and in neuropathies that may be isolated or associated with muscle phenotypes. More recently, genes involved in multisystemic proteinopathies, such as VCP, MATR3, SQTMS1 and TIA1, have also been associated with various combinations of nerve, brain, muscle, and bone diseases. On the other hand, genes such as HSPB8 or SPTAN1, known to be responsible for distal motor neuropathy, have been implicated in distal and/or axial myopathy or in a mixed pattern combining neurogenic and a myogenic component, both electromyographically and histologically. As sequencing techniques improve, unexpected genotype-phenotype correlations are emerging, involving a myopathy gene in peripheral neuropathy and vice versa, leading to a reassessment of the overlap between these two entities.
{"title":"[Overlap of neuropathy and myopathy genes: convergence of two entities].","authors":"Tanya Stojkovic, Marc Bitoun","doi":"10.1051/medsci/2025169","DOIUrl":"https://doi.org/10.1051/medsci/2025169","url":null,"abstract":"<p><p>Neuropathies and myopathies have long been studied separately, with little or no overlap described between the two entities. However, the advent of high-throughput molecular biology over the past 20 years led to the discovery of mutations in the same gene causing hereditary myopathies and neuropathies. While this overlap is well known for mitochondrial genes, it is more unexpected for genes such as BAG3, DES, and CRYAB, which are mutated both in myofibrillar myopathies and in neuropathies that may be isolated or associated with muscle phenotypes. More recently, genes involved in multisystemic proteinopathies, such as VCP, MATR3, SQTMS1 and TIA1, have also been associated with various combinations of nerve, brain, muscle, and bone diseases. On the other hand, genes such as HSPB8 or SPTAN1, known to be responsible for distal motor neuropathy, have been implicated in distal and/or axial myopathy or in a mixed pattern combining neurogenic and a myogenic component, both electromyographically and histologically. As sequencing techniques improve, unexpected genotype-phenotype correlations are emerging, involving a myopathy gene in peripheral neuropathy and vice versa, leading to a reassessment of the overlap between these two entities.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 Hors série n° 2 ","pages":"6-13"},"PeriodicalIF":0.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145635144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01Epub Date: 2025-12-12DOI: 10.1051/medsci/2025221
Ugo Hirigoyen, Nicolas Boisgerault
{"title":"[Oncolytic viruses influence the biogenesis and immunogenicity of tumor-derived extracellular vesicles].","authors":"Ugo Hirigoyen, Nicolas Boisgerault","doi":"10.1051/medsci/2025221","DOIUrl":"https://doi.org/10.1051/medsci/2025221","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 11","pages":"866-868"},"PeriodicalIF":0.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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