Enzyme Replacement Therapy for Genetic Disorders Associated with
Enzyme Deficiency

doi:10.2174/0929867328666210526144654
摘要

人类基因突变可能导致功能蛋白的丧失，导致疾病。在这些遗传性疾病中，很大一类与代谢酶的缺乏有关，导致底物浓度的增加和催化反应产生的代谢物的损失。基于小分子的治疗作用的鉴定对药物化学家来说是一个挑战，因为目标缺失。替代方法基于生物学，包括基因和干细胞治疗，CRISPR / Cas9技术，不同类型的RNA和酶替代疗法（ERT）。本文将重点介绍后一种方法，自20世纪90年代以来已成功应用于治疗许多罕见疾病，其中大多数是溶酶体贮积病或代谢性疾病。到目前为止，FDA / EMA已经批准了十几种酶用于溶酶体储存障碍，只有少数酶用于代谢疾病。用于替代疗法的酶主要在哺乳动物细胞中产生，一些在植物细胞和酵母中产生，并进一步加工以获得活性，高生物利用度，可降解性较低的产品。ERT功效增加仍在研究中的问题是优化酶与细胞膜和内化的相互作用，免疫原性的降低以及当需要靶向神经元细胞时克服血脑屏障限制。总体而言，ERT在治疗许多遗传性罕见疾病方面已经证明了其有效性和安全性，既挽救了新生儿的生命，又改善了患者的生活质量，并且是靶向生物制剂的一个非常成功的例子。
关键词: 酶缺乏症，遗传性疾病，重组蛋白，细胞内化，甘露糖6-磷酸，溶酶体储存障碍，代谢性疾病，生物制剂。
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DOI https://dx.doi.org/10.2174/0929867328666210526144654	Print ISSN 0929-8673
Publisher Name Bentham Science Publisher	Online ISSN 1875-533X
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