Molecular Mechanisms and Therapeutic Strategies in Heart Failure Due to Dystrophin Deficiency: A Comprehensive Review

肌营养不良蛋白缺乏引起心力衰竭的分子机制和治疗策略:一项综合综述

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Abstract

Dystrophin deficiency is the core pathological feature of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Indeed, a deficiency in dystrophin results in the progressive degeneration of skeletal muscle and severely compromises the structure and function of cardiomyocytes, eventually leading to dilated cardiomyopathy and heart failure. Thus, this review provides an in-depth analysis of the molecular mechanisms underlying dystrophin-deficient cardiomyopathy, including membrane instability, calcium dysregulation, mitochondrial dysfunction, and fibrosis. The role of inflammatory responses in disease progression is also discussed. In addition, we evaluate current and emerging therapeutic strategies, including gene therapy, pharmacological interventions, and regenerative medicine approaches, and highlight recent preclinical and clinical trial data. Finally, we explore future directions in precision medicine, novel biomarkers for early detection, and combination treatment regimens, to provide a comprehensive resource for clinicians and researchers working in this challenging field.

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