Tsukimura Takahiro, Shiga Tomoko, Togawa Tadayasu, Sakuraba Hitoshi
Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan.
Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan.
Mol Genet Metab Rep. 2024 Jul 15;40:101118. doi: 10.1016/j.ymgmr.2024.101118. eCollection 2024 Sep.
Enzyme replacement therapy (ERT) with recombinant human α-galactosidase A (α-Gal A) drugs (agalsidases) has been successfully used for treatment of Fabry disease, and three kinds of agalsidases are now available in Japan. To compare the biochemical characteristics of these drugs, especially focusing on their incorporation into cultured fibroblasts and organs/tissues of Fabry mice, we performed in vitro, cell, and animal experiments. The results revealed that there were no differences in the kinetic parameters and enzyme activity between these agalsidases. But their affinity for domain 9 of cation-independent mannose 6-phosphate receptor (CI-M6PR), which exists in various cells, was higher in the order: agalsidase beta biosimilar 1 (agalsidase beta BS) > agalsidase beta > agalsidase alfa, which almost coincided with the experimental results regarding the efficiency of their incorporation into cultured fibroblasts derived from a Fabry mouse. The results of animal experiments using Fabry mice revealed that the incorporation of the agalsidases into the kidneys and heart, where CI-M6PRs are widely distributed, was efficient in the order: agalsidase beta/agalsidase beta BS > agalsidase alfa, which reflected the degree of reduction of glycosphingolipids accumulated in the organs/tissues. On the other hand, no differences in the efficiency of their uptake or reduction of the accumulated substances were observed in the liver, probably due to asialoglycoprotein receptors expressed on the surface of hepatocytes. This information will be useful for making a suitable ERT plan for individual Fabry patients with various backgrounds and for developing new ERT drugs in the future.
重组人α-半乳糖苷酶A(α-Gal A)药物(阿加糖酶)的酶替代疗法(ERT)已成功用于治疗法布里病,目前日本有三种阿加糖酶可供使用。为了比较这些药物的生化特性,特别是关注它们在法布里病小鼠的培养成纤维细胞以及器官/组织中的摄取情况,我们进行了体外、细胞和动物实验。结果显示,这些阿加糖酶之间的动力学参数和酶活性没有差异。但是它们对存在于各种细胞中的非阳离子依赖性甘露糖6-磷酸受体(CI-M6PR)结构域9的亲和力顺序为:阿加糖酶β生物类似药1(阿加糖酶β BS)>阿加糖酶β>阿加糖酶α,这几乎与它们在法布里病小鼠来源的培养成纤维细胞中的摄取效率实验结果一致。使用法布里病小鼠进行的动物实验结果显示,阿加糖酶在CI-M6PR广泛分布的肾脏和心脏中的摄取效率顺序为:阿加糖酶β/阿加糖酶β BS>阿加糖酶α,这反映了器官/组织中积累的糖鞘脂减少的程度。另一方面,在肝脏中未观察到它们摄取或减少积累物质的效率存在差异,这可能是由于肝细胞表面表达的去唾液酸糖蛋白受体所致。这些信息将有助于为具有不同背景的个体法布里病患者制定合适的ERT方案,并在未来开发新的ERT药物。