为每一次跳动而战:杜氏肌营养不良症的心脏治疗。

IF 4.4 2区 医学 Q2 CELL BIOLOGY
Antoine Muchir
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引用次数: 0

摘要

杜氏肌营养不良症(DMD)是一种严重的进行性遗传疾病,由DMD基因突变引起,导致肌膜上一种关键结构蛋白-肌营养不良蛋白的缺失。随着疾病的进展,心脏受累成为发病率和死亡率的主要原因。到青春期或成年早期,许多患者发展为扩张型心肌病和心律失常。与骨骼肌一样,DMD患者的心肌也缺乏肌营养不良蛋白,并经历类似的退行性改变,最终导致心室扩张、收缩功能障碍和心力衰竭。早期发现和积极管理心功能障碍是优化结果的必要条件。尽管几十年的研究取得了重大进展,但DMD的最终治疗方法仍然难以捉摸。为了纪念世界杜氏认知日,本综述强调了当前和新兴的治疗策略,这些策略有可能改变DMD的心脏护理并改善患者的生活。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Skeletal Muscle
Skeletal Muscle CELL BIOLOGY-
CiteScore
9.10
自引率
0.00%
发文量
25
审稿时长
12 weeks
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.
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