Pub Date : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024135
Robin Reynaud Dulaurier, Julie Brocard, John Rendu, Nagi Debbah, Julien Fauré, Isabelle Marty
Genetic screening of rare diseases allows identification of the responsible gene(s) in about 50% of patients. The remaining cases are in a diagnostic deadlock as current knowledge fails to identify the correct gene or determine if the detected variant on the gene is pathogenic. These are named "variants of unknown significance" (VUS). In the case of neuromuscular diseases, the RYR1 gene is often implicated, with the majority of variants classified as VUS, requiring reliable classification to help patient diagnosis. Our project aims to create an efficient classification pipeline, integrating artificial intelligence, structural biology data, and functional analyses to enhance genetic diagnosis of RYR1-related diseases.
{"title":"[From gene to cell: Functional validation of RYR1 variants].","authors":"Robin Reynaud Dulaurier, Julie Brocard, John Rendu, Nagi Debbah, Julien Fauré, Isabelle Marty","doi":"10.1051/medsci/2024135","DOIUrl":"10.1051/medsci/2024135","url":null,"abstract":"<p><p>Genetic screening of rare diseases allows identification of the responsible gene(s) in about 50% of patients. The remaining cases are in a diagnostic deadlock as current knowledge fails to identify the correct gene or determine if the detected variant on the gene is pathogenic. These are named \"variants of unknown significance\" (VUS). In the case of neuromuscular diseases, the RYR1 gene is often implicated, with the majority of variants classified as VUS, requiring reliable classification to help patient diagnosis. Our project aims to create an efficient classification pipeline, integrating artificial intelligence, structural biology data, and functional analyses to enhance genetic diagnosis of RYR1-related diseases.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"30-33"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648525","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 : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024162
Marion Derome, Jérôme Denard, Martina Marinello, Thierry Levade, Odile Boespflug-Tanguy, Ana Buj-Bello
Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are two ultra-rare lysosomal storage disorders resulting from loss-of-function mutations in the ASAH1 gene encoding for acid ceramidase (ACDase). ACDase deficiency leads to the intracellular accumulation of ceramides with an inflammatory response in tissues. These two diseases manifest differently but are part of a clinical continuum with variable severity affecting the nervous system and/or peripheral tissues, including the neuromuscular system. To date, no specific or curative treatments are available for patients affected by acid ceramidase deficiency. Here, we summarize the clinical features, enzyme function, mouse models and therapeutic perspectives for these allelic diseases.
{"title":"[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].","authors":"Marion Derome, Jérôme Denard, Martina Marinello, Thierry Levade, Odile Boespflug-Tanguy, Ana Buj-Bello","doi":"10.1051/medsci/2024162","DOIUrl":"10.1051/medsci/2024162","url":null,"abstract":"<p><p>Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are two ultra-rare lysosomal storage disorders resulting from loss-of-function mutations in the ASAH1 gene encoding for acid ceramidase (ACDase). ACDase deficiency leads to the intracellular accumulation of ceramides with an inflammatory response in tissues. These two diseases manifest differently but are part of a clinical continuum with variable severity affecting the nervous system and/or peripheral tissues, including the neuromuscular system. To date, no specific or curative treatments are available for patients affected by acid ceramidase deficiency. Here, we summarize the clinical features, enzyme function, mouse models and therapeutic perspectives for these allelic diseases.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"52-55"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648607","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 : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024129
Lola Lessard, Laure Gallay, Rémi Mounier
Myotonic dystrophy type I (DM1) is a genetic disease characterized by a multisystemic RNA metabolism dysregulation and splicing toxicity. Numerous signaling pathways are deregulated, and especially AMPK, a key sensor and regulator of cellular metabolism. To restore AMPK signaling activity in DM1 muscle tissue and cells could improve mitochondrial biogenesis and dynamics, mitophagy and oxidative stress, energy production and, in fine, skeletal muscle tissue homeostasis.
肌营养不良 I 型（DM1）是一种遗传性疾病，其特点是多系统 RNA 代谢失调和剪接毒性。许多信号通路都发生了失调，尤其是AMPK，它是细胞新陈代谢的一个关键传感器和调节器。恢复AMPK信号在DM1肌肉组织和细胞中的活性，可以改善线粒体的生物生成和动力学、有丝分裂吞噬和氧化应激、能量产生以及骨骼肌组织的稳态。
{"title":"[Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target].","authors":"Lola Lessard, Laure Gallay, Rémi Mounier","doi":"10.1051/medsci/2024129","DOIUrl":"10.1051/medsci/2024129","url":null,"abstract":"<p><p>Myotonic dystrophy type I (DM1) is a genetic disease characterized by a multisystemic RNA metabolism dysregulation and splicing toxicity. Numerous signaling pathways are deregulated, and especially AMPK, a key sensor and regulator of cellular metabolism. To restore AMPK signaling activity in DM1 muscle tissue and cells could improve mitochondrial biogenesis and dynamics, mitophagy and oxidative stress, energy production and, in fine, skeletal muscle tissue homeostasis.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"40-44"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648530","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 : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024164
{"title":"[Jellyfish invasion on the coast of La Baule (MyoImage)].","authors":"","doi":"10.1051/medsci/2024164","DOIUrl":"https://doi.org/10.1051/medsci/2024164","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"45"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648504","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 : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024161
Alexis Boulinguiez, Dounia Bouragba, Barbara Crisol, Anne Bigot, Gillian Butler-Browne, Capucine Trollet
Myopathies are a heterogeneous group of diseases characterized by progressive muscle weakness and degeneration. While muscle diseases have a major impact on patients' quality of life, a growing number of pre-clinical and clinical studies suggest that adapted physical exercise is beneficial in alleviating some symptoms and improving some functional parameters. This brief review of the literature discusses the current state of research about the effects of exercise in humans with various muscle diseases, exploring its impact on molecular mechanisms, muscle strength, endurance, function and the quality of life.
{"title":"[Effects of physical exercise in muscular dystrophies].","authors":"Alexis Boulinguiez, Dounia Bouragba, Barbara Crisol, Anne Bigot, Gillian Butler-Browne, Capucine Trollet","doi":"10.1051/medsci/2024161","DOIUrl":"10.1051/medsci/2024161","url":null,"abstract":"<p><p>Myopathies are a heterogeneous group of diseases characterized by progressive muscle weakness and degeneration. While muscle diseases have a major impact on patients' quality of life, a growing number of pre-clinical and clinical studies suggest that adapted physical exercise is beneficial in alleviating some symptoms and improving some functional parameters. This brief review of the literature discusses the current state of research about the effects of exercise in humans with various muscle diseases, exploring its impact on molecular mechanisms, muscle strength, endurance, function and the quality of life.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"17-21"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648500","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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