[I 型肌营养不良症的代谢功能障碍：潜在的治疗目标]。

IF 0.6 4区医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL

M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI:10.1051/medsci/2024129

Lola Lessard, Laure Gallay, Rémi Mounier

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引用次数: 0

摘要

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。

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[Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target].

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.

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来源期刊

M S-medecine Sciences 医学-医学：研究与实验

CiteScore

0.80

自引率

14.30%

发文量

182

审稿时长

4-8 weeks

期刊介绍： m/s offers high-quality review articles in French, covering all areas of biomedical and health research, in a monthly magazine format (10 issues / year). m/s is read by the whole French-speaking community, in France but also in Belgium, Switzerland, Canada, Morocco, Algeria, Tunisia etc. m/s is not a primary publication, and thus will not consider unpublished data. Most articles are invited by the Editors, but spontaneous proposals are welcomed. Each issue combines news and views on the most recent scientific publications, as well as broadly accessible and updated review articles on a specific topic, and essays on science and society, history of science, public health, or reactions to published articles. Each year, m/s also publishes one or two thematic issues focused on a research topic of high interest. All review articles and essays are peer-reviewed.