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Review Article

NF1，神经纤维蛋白和基因治疗:下一代的治疗前景

卷 20, 期 2, 2020

页: [100 - 108] 页: 9

弟呕挨: 10.2174/1566523220666200806111451

价格: $65

摘要

1型神经纤维瘤病[NF1]是一种多器官常染色体显性遗传疾病。NF1以其各种临床表现而闻名，包括咖啡-金斑、Lisch结节、骨畸形和神经纤维瘤。然而，对于NF1尚无有效的治疗方法。目前治疗的目的是缓解NF1的临床症状，但没有治愈疾病。通过改变致病基因，基因治疗在核苷酸水平上调控细胞活性。本文综述了神经纤维蛋白结构域的结构和功能，包括间隙相关结构域[GRD]、富含半胱氨酸丝氨酸结构域[CSRD]、富含亮氨酸结构域[LRD]和c端结构域[CTD]，分别改变了下游通路。通过转染这些区域的分离序列，研究人员可以部分恢复神经纤维瘤细胞系的正常细胞功能。此外，重组转基因序列可以被设计成编码被截断的蛋白质，这是功能和容易包装成病毒载体。此外，基因治疗的治疗效果还受载体选择、转基因包装策略和给药等多种因素的影响。本文总结了多种NF1基因治疗策略，并从多个角度探讨其可行性。不同的蛋白结构域改变了神经纤维蛋白的功能和下游通路。

关键词: 基因治疗，1型神经纤维瘤病，丛状神经纤维瘤，恶性周围神经鞘瘤，腺相关病毒载体，神经纤维瘤病

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图形摘要

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