{"title":"为每一次跳动而战:杜氏肌营养不良症的心脏治疗。","authors":"Antoine Muchir","doi":"10.1186/s13395-025-00394-2","DOIUrl":null,"url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is a severe, progressive genetic disorder caused by mutations in the DMD gene, resulting in the absence of dystrophin-a key structural protein at the sarcolemma. As the disease progresses, cardiac involvement becomes a leading cause of morbidity and mortality. By adolescence or early adulthood, many patients develop dilated cardiomyopathy and arrhythmias. Like skeletal muscle, cardiac muscle in DMD patients lacks dystrophin and undergoes similar degenerative changes, ultimately leading to ventricular dilation, systolic dysfunction, and heart failure. Early detection and proactive management of cardiac dysfunction are essential for optimizing outcomes. Despite significant advances and decades of research, a definitive cure for DMD remains elusive. In recognition of World Duchenne Awareness Day, this review highlights current and emerging therapeutic strategies with the potential to transform cardiac care in DMD and improve the lives of those affected.</p>","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":"15 1","pages":"25"},"PeriodicalIF":4.4000,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418671/pdf/","citationCount":"0","resultStr":"{\"title\":\"Fighting for every beat: cardiac therapies in Duchenne muscular dystrophy.\",\"authors\":\"Antoine Muchir\",\"doi\":\"10.1186/s13395-025-00394-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Duchenne muscular dystrophy (DMD) is a severe, progressive genetic disorder caused by mutations in the DMD gene, resulting in the absence of dystrophin-a key structural protein at the sarcolemma. As the disease progresses, cardiac involvement becomes a leading cause of morbidity and mortality. By adolescence or early adulthood, many patients develop dilated cardiomyopathy and arrhythmias. Like skeletal muscle, cardiac muscle in DMD patients lacks dystrophin and undergoes similar degenerative changes, ultimately leading to ventricular dilation, systolic dysfunction, and heart failure. Early detection and proactive management of cardiac dysfunction are essential for optimizing outcomes. Despite significant advances and decades of research, a definitive cure for DMD remains elusive. In recognition of World Duchenne Awareness Day, this review highlights current and emerging therapeutic strategies with the potential to transform cardiac care in DMD and improve the lives of those affected.</p>\",\"PeriodicalId\":21747,\"journal\":{\"name\":\"Skeletal Muscle\",\"volume\":\"15 1\",\"pages\":\"25\"},\"PeriodicalIF\":4.4000,\"publicationDate\":\"2025-09-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418671/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Skeletal Muscle\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13395-025-00394-2\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Skeletal Muscle","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13395-025-00394-2","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
Fighting for every beat: cardiac therapies in Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) is a severe, progressive genetic disorder caused by mutations in the DMD gene, resulting in the absence of dystrophin-a key structural protein at the sarcolemma. As the disease progresses, cardiac involvement becomes a leading cause of morbidity and mortality. By adolescence or early adulthood, many patients develop dilated cardiomyopathy and arrhythmias. Like skeletal muscle, cardiac muscle in DMD patients lacks dystrophin and undergoes similar degenerative changes, ultimately leading to ventricular dilation, systolic dysfunction, and heart failure. Early detection and proactive management of cardiac dysfunction are essential for optimizing outcomes. Despite significant advances and decades of research, a definitive cure for DMD remains elusive. In recognition of World Duchenne Awareness Day, this review highlights current and emerging therapeutic strategies with the potential to transform cardiac care in DMD and improve the lives of those affected.
期刊介绍:
The only open access journal in its field, Skeletal Muscle publishes novel, cutting-edge research and technological advancements that investigate the molecular mechanisms underlying the biology of skeletal muscle. Reflecting the breadth of research in this area, the journal welcomes manuscripts about the development, metabolism, the regulation of mass and function, aging, degeneration, dystrophy and regeneration of skeletal muscle, with an emphasis on understanding adult skeletal muscle, its maintenance, and its interactions with non-muscle cell types and regulatory modulators.
Main areas of interest include:
-differentiation of skeletal muscle-
atrophy and hypertrophy of skeletal muscle-
aging of skeletal muscle-
regeneration and degeneration of skeletal muscle-
biology of satellite and satellite-like cells-
dystrophic degeneration of skeletal muscle-
energy and glucose homeostasis in skeletal muscle-
non-dystrophic genetic diseases of skeletal muscle, such as Spinal Muscular Atrophy and myopathies-
maintenance of neuromuscular junctions-
roles of ryanodine receptors and calcium signaling in skeletal muscle-
roles of nuclear receptors in skeletal muscle-
roles of GPCRs and GPCR signaling in skeletal muscle-
other relevant aspects of skeletal muscle biology.
In addition, articles on translational clinical studies that address molecular and cellular mechanisms of skeletal muscle will be published. Case reports are also encouraged for submission.
Skeletal Muscle reflects the breadth of research on skeletal muscle and bridges gaps between diverse areas of science for example cardiac cell biology and neurobiology, which share common features with respect to cell differentiation, excitatory membranes, cell-cell communication, and maintenance. Suitable articles are model and mechanism-driven, and apply statistical principles where appropriate; purely descriptive studies are of lesser interest.