Kim Chihwa, Seo Jinwook, Chung Yokyung, Ji Hyi-Jeong, Lee Jaehyeon, Sohn Jongmun, Lee Byoungju, Jo Eui-Cheol
Protein Engineering Laboratory, MOGAM Institute for Biomedical Research, Yongin, Republic of Korea.
Research Center, Green Cross Corporation, Yongin, Republic of Korea.
J Hum Genet. 2017 Feb;62(2):167-174. doi: 10.1038/jhg.2016.133. Epub 2016 Nov 10.
Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome. These two enzymes exhibited some differences in various clinical parameters in a recent clinical trial. Regarding the similarities and differences of these enzymes, previous research has characterized their biochemical and physicochemical properties. We compared the in vitro and in vivo efficacy of the two enzymes on patient fibroblasts and mouse model. Two enzymes were taken up into the cell and degraded GAGs accumulated in fibroblasts. In vivo studies of two enzymes revealed similar organ distribution and decreased urinary GAGs excretion. Especially, idursulfase beta exhibited enhanced in vitro efficacy for the lower concentration of treatment, in vivo efficacy in the degradation of tissue GAGs and improvement of bones, and revealed lower anti-drug antibody formation. A biochemical analysis showed that both enzymes show largely a similar glycosylation pattern, but the several peaks were different and quantity of aggregates of idursulfase beta was lower.
亨特综合征是一种X连锁溶酶体贮积病,由艾杜糖醛酸-2-硫酸酯酶(IDS)缺乏引起,导致糖胺聚糖(GAGs)蓄积。目前有两种重组酶,即艾杜糖硫酸酯酶和艾杜糖硫酸酯酶β可用于亨特综合征的酶替代疗法。在最近的一项临床试验中,这两种酶在各种临床参数上表现出一些差异。关于这些酶的异同,先前的研究已经对它们的生化和物理化学性质进行了表征。我们比较了这两种酶在患者成纤维细胞和小鼠模型上的体外和体内疗效。两种酶都被细胞摄取并降解成纤维细胞中蓄积的GAGs。两种酶的体内研究显示出相似的器官分布,并减少了尿GAGs排泄。特别是,艾杜糖硫酸酯酶β在较低治疗浓度下表现出增强的体外疗效、在组织GAGs降解和骨骼改善方面的体内疗效,并且显示出较低的抗药物抗体形成。生化分析表明,两种酶在很大程度上具有相似的糖基化模式,但几个峰有所不同,且艾杜糖硫酸酯酶β的聚集体数量较低。