杜兴氏肌肉萎缩症的分子和生化治疗策略

IF 3.2 Q2 CLINICAL NEUROLOGY
Lakshmi Krishna, Akila Prashant, Yogish H. Kumar, S. Paneyala, Siddaramappa J. Patil, S. C. Ramachandra, Prashant M. Vishwanath
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引用次数: 0

摘要

在了解杜兴氏肌营养不良症(DMD)的发病机制和开发延缓疾病进展的治疗方法方面取得了重大进展。这篇综述文章全面评估了 DMD 的主要和次要疗法,重点关注创新模式。主要疗法针对导致 DMD 的基因异常,特别是肌营养不良蛋白的缺失或表达减少。基因替代疗法,如外显子跳过、读穿和基因编辑技术,有望恢复肌营养不良蛋白的表达。腺相关病毒(AAV)是基于病毒载体的基因疗法的最新进展,在临床前和临床研究中取得了令人鼓舞的成果。辅助疗法旨在通过减轻 DMD 症状和并发症来维持肌肉功能和提高生活质量。事实证明,泼尼松和去甲斑蝥素等糖皮质激素类药物可有效延缓疾病进展,推迟丧失行动能力的时间。针对钙失调、组蛋白去乙酰化酶和氧化还原失衡的支持性治疗对于保持整体健康和功能也至关重要。此外,该综述还详细列出了正在进行和已获批准的 DMD 临床试验,探讨了各种治疗方法,如基因疗法、外显子跳越药物、utrophin 调节剂、抗炎药物和新型化合物。这凸显了研究领域的活力以及为开发有效的 DMD 治疗方法所做的不懈努力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular and Biochemical Therapeutic Strategies for Duchenne Muscular Dystrophy
Significant progress has been achieved in understanding Duchenne muscular dystrophy (DMD) mechanisms and developing treatments to slow disease progression. This review article thoroughly assesses primary and secondary DMD therapies, focusing on innovative modalities. The primary therapy addresses the genetic abnormality causing DMD, specifically the absence or reduced expression of dystrophin. Gene replacement therapies, such as exon skipping, readthrough, and gene editing technologies, show promise in restoring dystrophin expression. Adeno-associated viruses (AAVs), a recent advancement in viral vector-based gene therapies, have shown encouraging results in preclinical and clinical studies. Secondary therapies aim to maintain muscle function and improve quality of life by mitigating DMD symptoms and complications. Glucocorticoid drugs like prednisone and deflazacort have proven effective in slowing disease progression and delaying loss of ambulation. Supportive treatments targeting calcium dysregulation, histone deacetylase, and redox imbalance are also crucial for preserving overall health and function. Additionally, the review includes a detailed table of ongoing and approved clinical trials for DMD, exploring various therapeutic approaches such as gene therapies, exon skipping drugs, utrophin modulators, anti-inflammatory agents, and novel compounds. This highlights the dynamic research field and ongoing efforts to develop effective DMD treatments.
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来源期刊
Neurology International
Neurology International CLINICAL NEUROLOGY-
CiteScore
3.70
自引率
3.30%
发文量
69
审稿时长
11 weeks
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