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Review Article

杜氏肌肉营养不良症基因疗法

卷 24, 期 1, 2024

发表于: 06 January, 2023

页: [17 - 28] 页: 12

弟呕挨: 10.2174/1566523223666221118160932

价格: $65

摘要

杜氏型和贝克型肌营养不良是影响骨骼肌和心肌的等位基因X连锁隐性神经肌肉疾病。因此，由于其单一的X染色体，受影响的男孩会从其不知情的携带者母亲那里获得致病基因突变。目前的药物是姑息性的，可以解决疾病的症状，而不是嵌入肌营养不良蛋白基因DNA序列中的遗传原因。因此，从根本上解决疾病遗传原因的基因药物等替代疗法至关重要，包括基因转移/植入、外显子跳跃和基因编辑。目前，通过基因重编程，可以设计AAV载体，将某些治疗货物专门输送到肌肉或其他器官，无论其血清型如何。类似地，可以引导外泌体的生物发生，将基因编辑成分或某些治疗货物携带到特定的组织或细胞类型，如大脑和肌肉。虽然自体外泌体在免疫上是惰性的，但有可能伪装AAV衣壳和脂质纳米颗粒以逃避免疫系统的识别。在这篇综述中，我们强调了目前Duchenne肌营养不良基因治疗的机会，迄今为止，Duchenne肌肉营养不良是一种无法治愈的遗传病。本文是罕见遗传病基因治疗专题的一部分。

关键词: 杜氏肌肉营养不良症、微营养素、药效团、腺相关病毒、外显子跳跃、CRISPR/Cas基因编辑、基因治疗、基因药物、遗传药物、基因组药物。

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图形摘要

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